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Research Publications

An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation. Ankit K Desai, Garima Shrivastava, Christina L Grant, Raymond Y Wang, Trevor D Burt, Priya S Kishnani. Front Immunol. 2024 Mar 8;15:1360369. doi: 10.3389/fimmu.2024.1360369. PMID: 38524130; PMCID: PMC10959098.

Pompe disease is an inherited lysosomal disorder caused by an abnormal enzyme that cannot break down glycogen. Patients with infantile-onset Pompe disease often experience high-sustained anti-rhGAA IgG antibody titers (HSAT), which can lower the efficacy of enzyme replacement therapy and lead to health complications.

In this study, researchers explored management approaches for HSAT in patients with Pompe disease. The team compared the disease course of eight patients with infantile-onset Pompe who were treated with the drug bortezomib. Researchers tracked differences in timing, dosage, and outcomes among these patients.

Results suggest that bortezomib should be initiated at the earliest sign of HSAT with a minimum of two consecutive treatment cycles to achieve optimal outcomes. Authors recommend close monitoring of HSAT and early intervention as soon as significantly elevated levels are noted.

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN). Brima T, Freedman EG, Prinsloo KD, Augustine EF, Adams HR, Wang KH, Mink JW, Shaw LH, Mantel EP, Foxe JJ. J Neurodev Disord. 2024 Jan 6;16(1):3. doi: 10.1186/s11689-023-09515-8. PMID: 38183037; PMCID: PMC10770910.

CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis or Batten disease, is a type of lysosomal disorder that affects the nervous system beginning in childhood. Throughout adolescence and early adulthood, patients often experience progressive vision loss, motor dysfunction, and cognitive decline. This combination of symptoms can make it challenging to assess neurocognitive decline, highlighting the need for quantitative measures of brain function.

In this study, researchers assessed auditory sensory memory capabilities in individuals with CLN3 disease as a potential biomarker for neurocognitive decline. The team used a type of assessment called duration-evoked mismatch negativity (MMN)—which does not require participant engagement—to study early auditory processing, discrimination, and sensory memory in 21 individuals with CLN3 disease and 41 neurotypical controls.

Results reveal a decline in auditory sensory memory for duration as CLN3 disease progresses. Authors note that duration-evoked MMN may also serve as a sensitive measure of disease severity in other neurodevelopmental disorders.

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study. Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE. J Inherit Metab Dis. 2023 Feb 25. doi: 10.1002/jimd.12598. Epub ahead of print. PMID: 36840680.

Mucopolysaccharidosis (MPS) disorders are a group of nine rare, inherited, lysosomal storage disorders caused by genetic mutations which produce 11 dysfunctional enzymes that cannot break down glycosaminoglycans (complex sugar molecules with amino groups that are critical components of connective tissues). MPS disorders have many potential new therapies on the horizon. However, historic control data on disease progression and variability are needed to understand the long-term benefits and limitations of these treatments.

In this study, researchers conducted a 10-year prospective observational study of 55 children with multiple types of MPS. The team used several techniques, including annual measurements and mixed effects modeling, to systematically evaluate bone and joint disease over time.

Results show that despite current treatments, patients with MPS I, II, and VI still experience short stature, joint contractures, and elevation in average BMI. Authors note that data from this study could be used to expedite testing of therapies directed to bones and joints, as well as highlight the need for weight management in routine clinical care for patients with MPS.

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years. Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18.

A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease. Silvestroni A, Sokolovskiy A, Tøndel C, Svarstad E, Obrisca B, Ismail G, Holida MD, Mauer M. Kidney Int. 2022 Jul;102(1):173-182. doi: 10.1016/j.kint.2022.03.023. Epub 2022 Apr 26. PMID: 35483528; PMCID: PMC9233139.

Fabry disease is a lysosomal storage disorder caused by an abnormal enzyme that cannot break down some of the glycosphingolipids (cell membrane components containing fats with sugar molecules attached). The increase in one of these glycosphingolipids, called globotriasylceramide (GL3), is the hallmark of the disease and associated with cellular injury. The Fabry disease gene is located on the X chromosome. In contrast to males, females have two X chromosomes in their cells, one of which is randomly inactivated. Although female patients can experience serious complications of Fabry disease, most studies focus on male patients in order to avoid confusion resulting from mosaicism caused by X chromosome inactivation. In this study, researchers developed a new, unbiased method for GL3 estimation in podocytes (kidney cells that wrap around capillaries in the kidney filters called glomeruli) independent of mosaicism in female patients with Fabry disease. Researchers used this method to make age-matched comparisons between female and male patients and controls. Results showed that GL3 accumulation in podocytes that carry the gene defect in female patients with Fabry disease increases with age—and to the same levels as podocytes in males, all of which carry this defect. This accumulation is also associated with podocyte loss and leaking protein in the urine, predictors of kidney failure. These studies indicate that Fabry-affected podocytes in female patients do not benefit from the circulating normal enzyme from their normal cells or from normal neighbor podocytes. Authors note that these novel findings help us better understand the mechanisms involved in Fabry disease complications and have important clinical implications.

Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease. Sahasrabudhe SA, Terluk MR, Rudser KD, Cloyd JC, Kartha RV. Int J Mol Sci. 2022 Aug 16;23(16):9189. doi: 10.3390/ijms23169189. PMID: 36012454; PMCID: PMC9409136.

Gaucher disease type 1 (GD1) is a rare lysosomal storage disorder in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. Currently, there is a lack of reliable biomarkers for GD1, which could help predict treatment success or disease progression. In this study, researchers aimed to validate measures of oxidative stress and inflammation as biomarkers for GD1. For three months, the team investigated and compared variation in various blood-based oxidative stress and inflammation biomarkers in participants with GD1. Results show that specific biomarkers are consistently altered in GD1, regardless of therapy status. These findings highlight the need for additional therapies that can target and modulate these biomarkers. Authors note that this information can help guide the selection of candidate biomarkers for future intervention-based studies in patients with GD1.

Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes. Ahmed A, Rudser K, King KE, Eisengart JB, Orchard PJ, Shapiro E, Whitley CB. Mol Genet Metab. 2022 May;136(1):22-27. doi: 10.1016/j.ymgme.2022.03.003. Epub 2022 Mar 10. PMID: 35304037.

Mucopolysaccharidosis (MPS) is a group of inherited conditions in which the body is unable to properly break down mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars build up in cells, blood, and connective tissue, leading to a variety of health problems. A physical symptom score (PSS) has been developed to characterize physical symptoms of MPS in older children. With the onset of newborn screening, there is an increased need to characterize these symptoms in infants and toddlers. In this study, researchers aimed to create a measure to quantify somatic (physical) burden in patients with MPS under 36 months of age. They established the Infant Physical Symptom Score (IPSS) using data from 39 patients with Hurler syndrome (MPS IH) enrolled in a Lysosomal Disease Network (LDN) study. To validate the new scale, researchers compared the IPSS with the PSS. Results show that the IPSS is a useful approach to quantifying the somatic disease burden of MPS IH patients under 36 months of age. Authors note that the IPSS may also provide a predictor of later outcomes, especially adaptive function.

A diagnostic confidence scheme for CLN3 disease. Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. J Inherit Metab Dis. 2021 Aug 28. doi: 10.1002/jimd.12429. Online ahead of print.

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time. Researchers seeking to improve diagnostic methods for CLN3 disease used genotype and phenotype data from an ongoing natural history study to develop a hierarchical diagnostic confidence scheme with three major classes: Definite, Probable, or Possible CLN3 disease. An additional level, CLN3 Disease PLUS, includes individuals with CLN3 disease plus an additional disorder that substantially affects the phenotype. They used the scheme to classify individuals and then performed a blinded reclassification to assess the reliability of this scheme. Test-retest reliability showed 96% agreement. Authors conclude that their diagnostic confidence scheme for CLN3 disease appears to be effective and has implications for clinical research in CLN3 and other rare genetic neurodegenerative disorders.

Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy. Kovacs KD, Orlin A, Sondhi D, Kaminsky SM, D'Amico DJ, Crystal RG, Kiss S. Transl Vis Sci Technol. 2021 Jul 1;10(8):23. doi: 10.1167/tvst.10.8.23.

CLN2-associated disease is an inherited, fatal lysosomal storage disorder characterized by progressive brain and retinal deterioration. In this study, researchers evaluated the eyes of 14 patients using the automated segmentation software in optical coherence tomography scans to characterize inner and outer retinal degeneration. Their goal was to identify sensitive, quantitative biomarkers for assessing retinal degeneration in anticipation of future clinical trials. They identified a significant, progressive difference in the thickness of the outer nuclear layers (ONL) of the parafovea, a region in the retina, in patients from 39 to 45 months versus 46 to 52 months. They conclude that parafoveal ONL thickness is a sensitive, early age indicator of CLN2-associated retinal degeneration.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS. Genet Med. 2021 May;23(5):845-855. doi: 10.1038/s41436-020-01080-y. Epub 2021 Jan 25.

This study of 41 patients with cross-reactive immunological material (CRIM)-negative infantile Pompe disease (IPD) showed that early treatment with enzyme replacement therapy and prophylactic immune tolerance induction can transform the long-term CRIM-negative phenotype, which represents the most severe end of the Pompe disease spectrum.

Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts. Flanagan M, Pathak I, Gan Q, Winter L, Emnet R, Akel S, Montaño AM. Stem Cell Res Ther. 2021 May 6;12(1):276. doi: 10.1186/s13287-021-02355-0.

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases. Ou L, Przybilla MJ, Tăbăran AF, Overn P, O'Sullivan MG, Jiang X, Sidhu R, Kell PJ, Ory DS, Whitley CB. Gene Ther. 2020 May;27(5):226-236. doi: 10.1038/s41434-019-0120-5. Epub 2020 Jan 2.

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. Najafian B, Tøndel C, Svarstad E, Gubler MC, Oliveira JP, Mauer M. J Am Soc Nephrol. 2020 Apr;31(4):865-875. doi: 10.1681/ASN.2019050497. Epub 2020 Mar 3.

Behavioral, social and school functioning in children with Pompe disease. Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec.

Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort. Desai AK, Baloh CH, Sleasman JW, Rosenberg AS, Kishnani PS. Front Immunol. 2020 Aug 6;11:1727. doi: 10.3389/fimmu.2020.01727. eCollection 2020.

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I. Lund TC, Doherty TM, Eisengart JB, Freese RL, Rudser KD, Fung EB, Miller BS, White KK, Orchard PJ, Whitley CB, Polgreen LE. JIMD Rep. 2020 Dec 8;58(1):89-99. doi: 10.1002/jmd2.12190. eCollection 2021 Mar.

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. Polgreen LE, Lund TC, Braunlin E, Tolar J, Miller BS, Fung E, Whitley CB, Eisengart JB, Northrop E, Rudser K, Miller WP, Orchard PJ. Pediatr Res. 2020 Jan;87(1):104-111. doi: 10.1038/s41390-019-0541-2. Epub 2019 Aug 21.

Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I. Vera MU, Le SQ, Victoroff A, Passage MB, Brown JR, Crawford BE, Polgreen LE, Chen AH, Dickson PI. Mol Genet Metab. 2020 Feb;129(2):91-97. doi: 10.1016/j.ymgme.2019.09.001. Epub 2019 Sep 11.

GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies. Johnson PH, Weinreb NJ, Cloyd JC, Tuite PJ, Kartha RV. Mol Genet Metab. 2020 Feb;129(2):35-46. doi: 10.1016/j.ymgme.2019.10.006. Epub 2019 Oct 23.

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study. Chen AH, Harmatz P, Nestrasil I, Eisengart JB, King KE, Rudser K, Kaizer AM, Svatkova A, Wakumoto A, Le SQ, Madden J, Young S, Zhang H, Polgreen LE, Dickson PI. Mol Genet Metab. 2020 Feb;129(2):80-90. doi: 10.1016/j.ymgme.2019.11.007. Epub 2019 Nov 30.

Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy. Kartha RV, Joers J, Terluk MR, Travis A, Rudser K, Tuite PJ, Weinreb NJ, Jarnes JR, Cloyd JC, Öz G. J Inherit Metab Dis. 2020 May;43(3):564-573. doi: 10.1002/jimd.12182. Epub 2019 Dec 17.

Novel approaches to quantify CNS involvement in children with Pompe disease. Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9.

Overview of advances in educational and social supports for young persons with NCL disorders. Elmerskog B, Tøssebro AG, Atkinson R, Rokne S, Cole B, Ockelford A, Adams HR. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165480. doi: 10.1016/j.bbadis.2019.05.016. Epub 2019 May 30.

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pediatr Pulmonol. 2020 Mar;55(3):674-681. doi: 10.1002/ppul.24621. Epub 2020 Jan 3.

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2. Sondhi D, Kaminsky SM, Hackett NR, Pagovich OE, Rosenberg JB, De BP, Chen A, Van de Graaf B, Mezey JG, Mammen GW, Mancenido D, Xu F, Kosofsky B, Yohay K, Worgall S, Kaner RJ, Souwedaine M, Greenwald BM, Kaplitt M, Dyke JP, Ballon DJ, Heier LA, Kiss S, Crystal RG. Sci Transl Med. 2020 Dec 2;12(572):eabb5413. doi: 10.1126/scitranslmed.abb5413.

Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease. Kovacs KD, Patel S, Orlin A, Kim K, Van Everen S, Conner T, Sondhi D, Kaminsky SM, D'Amico DJ, Crystal RG, Kiss S. Ophthalmol Retina. 2020 Jul;4(7):728-736. doi: 10.1016/j.oret.2020.01.011. Epub 2020 Jan 22.

The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. Masten MC, Williams JD, Vermilion J, Adams HR, Vierhile A, Collins A, Marshall FJ, Augustine EF, Mink JW. Neurology. 2020 Jun 9;94(23):e2436-e2440. doi: 10.1212/WNL.0000000000009454. Epub 2020 Apr 16.

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation. Ahmed A, Ou L, Rudser K, Shapiro E, Eisengart JB, King K, Chen A, Dickson P, Whitley CB. Mol Genet Metab Rep. 2019 Jun 27;20:100484. doi: 10.1016/j.ymgmr.2019.100484. eCollection 2019 Sep.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant. Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS. Mol Genet Metab. 2019 Feb;126(2):106-116. doi: 10.1016/j.ymgme.2018.08.009. Epub 2018 Aug 23.

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. Ou L, Kim S, Whitley CB, Jarnes-Utz JR. Mol Genet Metab Rep. 2019 Jul 17;20:100495. doi: 10.1016/j.ymgmr.2019.100495. eCollection 2019 Sep.

Intellectual functioning in alpha-mannosidosis. Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov.

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Eisengart JB, Pierpont EI, Kaizer AM, Rudser KD, King KE, Pasquali M, Polgreen LE, Dickson PI, Le SQ, Miller WP, Tolar J, Orchard PJ, Lund TC. Genet Med. 2019 Nov;21(11):2552-2560. doi: 10.1038/s41436-019-0522-1. Epub 2019 Apr 25.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. Ou L, Przybilla MJ, Whitley CB. Mol Genet Metab. 2019 Feb;126(2):151-156. doi: 10.1016/j.ymgme.2018.09.005. Epub 2018 Sep 14.

Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy. Langan TJ, Barczykowski A, Jalal K, Sherwood L, Allewelt H, Kurtzberg J, Carter RL. JIMD Rep. 2019 Apr 11;47(1):47-54. doi: 10.1002/jmd2.12033. eCollection 2019 May.

Aicardi goutières syndrome is associated with pulmonary hypertension. Adang LA, Frank DB, Gilani A, Takanohashi A, Ulrick N, Collins A, Cross Z, Galambos C, Helman G, Kanaan U, Keller S, Simon D, Sherbini O, Hanna BD, Vanderver AL. Mol Genet Metab. 2018 Dec;125(4):351-358. doi: 10.1016/j.ymgme.2018.09.004. Epub 2018 Sep 7.

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. Shapiro EG, Whitley CB, Eisengart JB. Orphanet J Rare Dis. 2018 May 11;13(1):76. doi: 10.1186/s13023-018-0817-3.

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A. Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR. Mol Genet Metab. 2018 Feb;123(2):97-104. doi: 10.1016/j.ymgme.2017.12.432. Epub 2017 Dec 20.

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Desai AK, Walters CK, Cope HL, Kazi ZB, DeArmey SM, Kishnani PS. Mol Genet Metab. 2018 Feb;123(2):92-96. doi: 10.1016/j.ymgme.2017.12.435. Epub 2017 Dec 23.

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Mengel KE, Gökce S, Guffon N, Giugliani R, de Souza CFM, Shapiro EG, Whitley CB. Genet Med. 2018 Nov;20(11):1423-1429. doi: 10.1038/gim.2018.29. Epub 2018 Mar 8.

Low frequency of Fabry disease in patients with common heart disease. Schiffmann R, Swift C, McNeill N, Benjamin ER, Castelli JP, Barth J, Sweetman L, Wang X, Wu X. Genet Med. 2018 Jul;20(7):754-759. doi: 10.1038/gim.2017.175. Epub 2017 Oct 26.

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA. Am J Med Genet A. 2018 Jun;176(6):1443-1448. doi: 10.1002/ajmg.a.38717. Epub 2018 Apr 25.

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. Mol Genet Metab. 2018 Feb;123(2):85-91. doi: 10.1016/j.ymgme.2017.10.005. Epub 2017 Oct 13.

Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. Shapiro E, Ahmed A, Whitley C, Delaney K. Mol Genet Metab. 2018 Feb;123(2):123-126. doi: 10.1016/j.ymgme.2017.11.014. Epub 2017 Nov 28.

RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system. Ou L, Przybilla MJ, Koniar B, Whitley CB. Mol Genet Metab. 2018 Feb;123(2):105-111. doi: 10.1016/j.ymgme.2017.11.013. Epub 2017 Nov 28.

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. Ou L, Przybilla MJ, Whitley CB. Clin Genet. 2018 May;93(5):1008-1014. doi: 10.1111/cge.13226. Epub 2018 Mar 5.

Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). Sindelar M, Dyke JP, Deeb RS, Sondhi D, Kaminsky SM, Kosofsky BE, Ballon DJ, Crystal RG, Gross SS. Sci Rep. 2018 Oct 15;8(1):15229. doi: 10.1038/s41598-018-33449-0.

Co-coating of receptor-targeted drug nanocarriers with anti-phagocytic moieties enhances specific tissue uptake versus non-specific phagocytic clearance. Kim J, Sinha S, Solomon M, Perez-Herrero E, Hsu J, Tsinas Z, Muro S. Biomaterials. 2017 Dec;147:14-25. doi: 10.1016/j.biomaterials.2017.08.045. Epub 2017 Sep 6.

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up. Spiridigliozzi GA, Keeling LA, Stefanescu M, Li C, Austin S, Kishnani PS. Mol Genet Metab. 2017 Jun;121(2):127-137. doi: 10.1016/j.ymgme.2017.04.014. Epub 2017 May 1.

Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report. Kim S, Whitley CB, Jarnes Utz JR. Mol Genet Metab. 2017 Sep;122(1-2):92-99. doi: 10.1016/j.ymgme.2017.06.001. Epub 2017 Jun 3.

Delayed Infusion Reactions to Enzyme Replacement Therapies. Karimian Z, Whitley CB, Rudser KD, Utz JRJ. JIMD Rep. 2017;34:63-70. doi: 10.1007/8904_2016_8. Epub 2016 Aug 25.

High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient. Rairikar M, Kazi ZB, Desai A, Walters C, Rosenberg A, Kishnani PS. Mol Genet Metab. 2017 Sep;122(1-2):76-79. doi: 10.1016/j.ymgme.2017.05.006. Epub 2017 May 18.

Infantile gangliosidoses: Mapping a timeline of clinical changes. Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS. Mol Genet Metab. 2017 Nov;122(3):99-107. doi: 10.1016/j.ymgme.2017.09.008. Epub 2017 Sep 19.

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. Nestrasil I, Shapiro E, Svatkova A, Dickson P, Chen A, Wakumoto A, Ahmed A, Stehel E, McNeil S, Gravance C, Maher E. Am J Med Genet A. 2017 Mar;173(3):780-783. doi: 10.1002/ajmg.a.38073.

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome. Eisengart JB, Jarnes J, Ahmed A, Nestrasil I, Ziegler R, Delaney K, Shapiro E, Whitley C. Mol Genet Metab Rep. 2017 Sep 27;13:64-68. doi: 10.1016/j.ymgmr.2017.07.012. eCollection 2017 Dec.

Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives. Solomon M, Muro S. Adv Drug Deliv Rev. 2017 Sep 1;118:109-134. doi: 10.1016/j.addr.2017.05.004. Epub 2017 May 11.

Proteomic analysis of mucopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis. Ou L, Przybilla MJ, Whitley CB. Mol Genet Metab. 2017 Jan-Feb;120(1-2):101-110. doi: 10.1016/j.ymgme.2016.10.001. Epub 2016 Oct 11.

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. Mauer M, Sokolovskiy A, Barth JA, Castelli JP, Williams HN, Benjamin ER, Najafian B. J Med Genet. 2017 Nov;54(11):781-786. doi: 10.1136/jmedgenet-2017-104826. Epub 2017 Jul 29.

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. JCI Insight. 2017 Aug 17;2(16):e94328. doi: 10.1172/jci.insight.94328. eCollection 2017 Aug 17.

The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls. Wang RY, Rudser KD, Dengel DR, Braunlin EA, Steinberger J, Jacobs DR, Sinaiko AR, Kelly AS. Int J Mol Sci. 2017 Mar 15;18(3):637. doi: 10.3390/ijms18030637.

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders. Rappaport J, Manthe RL, Solomon M, Garnacho C, Muro S. Mol Pharm. 2016 Feb 1;13(2):357-368. doi: 10.1021/acs.molpharmaceut.5b00542. Epub 2016 Jan 11.

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Shapiro EG, Rudser K, Ahmed A, Steiner RD, Delaney KA, Yund B, King K, Kunin-Batson A, Eisengart J, Whitley CB. Mol Genet Metab Rep. 2016 Apr 1;7:32-9. doi: 10.1016/j.ymgmr.2016.03.005. eCollection 2016 Jun.

Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. Ahmed A, Shapiro E, Rudser K, Kunin-Batson A, King K, Whitley CB. Mol Genet Metab Rep. 2016 Apr 1;7:27-31. doi: 10.1016/j.ymgmr.2016.03.006. eCollection 2016 Jun.

Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). Dyke JP, Sondhi D, Voss HU, Yohay K, Hollmann C, Mancenido D, Kaminsky SM, Heier LA, Rudser KD, Kosofsky B, Casey BJ, Crystal RG, Ballon D. AJNR Am J Neuroradiol. 2016 Jun;37(6):1160-9. doi: 10.3174/ajnr.A4669. Epub 2016 Jan 28.

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS. JCI Insight. 2016 Jul 21;1(11):e86821. doi: 10.1172/jci.insight.86821.

Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I. Ou L, Przybilla MJ, Koniar BL, Whitley CB. Mol Genet Metab Rep. 2016 Aug 13;8:87-93. doi: 10.1016/j.ymgmr.2015.11.004. eCollection 2016 Sep.

Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI. Polgreen LE, Vehe RK, Rudser K, Kunin-Batson A, Utz JJ, Dickson P, Shapiro E, Whitley CB. Mol Genet Metab. 2016 Apr;117(4):427-30. doi: 10.1016/j.ymgme.2016.01.012. Epub 2016 Jan 28.

Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease. Langan TJ, Barcykowski AL, Dare J, Pannullo EC, Muscarella L, Carter RL. J Neurosci Res. 2016 Nov;94(11):1189-94. doi: 10.1002/jnr.23787.

Hypothyroidism in late-onset Pompe disease. Schneider J, Burmeister LA, Rudser K, Whitley CB, Jarnes Utz J. Mol Genet Metab Rep. 2016 Jul 1;8:24-7. doi: 10.1016/j.ymgmr.2016.06.002. eCollection 2016 Sep.

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. Khalid O, Vera MU, Gordts PL, Ellinwood NM, Schwartz PH, Dickson PI, Esko JD, Wang RY. PLoS One. 2016 Mar 17;11(3):e0150850. doi: 10.1371/journal.pone.0150850. eCollection 2016.

Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity. Ahmed A, Rudser K, Kunin-Batson A, Delaney K, Whitley C, Shapiro E. JIMD Rep. 2016;26:61-8. doi: 10.1007/8904_2015_485. Epub 2015 Aug 25.

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. Najafian B, Tøndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M. PLoS One. 2016 Apr 15;11(4):e0152812. doi: 10.1371/journal.pone.0152812. eCollection 2016.

The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study. Shapiro E, King K, Ahmed A, Rudser K, Rumsey R, Yund B, Delaney K, Nestrasil I, Whitley C, Potegal M. Mol Genet Metab Rep. 2016 Mar 1;6:41-47. doi: 10.1016/j.ymgmr.2016.01.003.

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29.

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS. Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5.

Case definition and classification of leukodystrophies and leukoencephalopathies. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29.

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS. Mol Genet Metab Rep. 2015 Dec 1;5:76-79. doi: 10.1016/j.ymgmr.2015.10.012.

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. Mol Genet Metab. 2015 Feb;114(2):170-7. doi: 10.1016/j.ymgme.2014.12.299. Epub 2014 Dec 9.

Consensus statement on preventive and symptomatic care of leukodystrophy patients. Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.

Disease specific therapies in leukodystrophies and leukoencephalopathies. Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.

Gene therapy for neurologic manifestations of mucopolysaccharidoses. Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC. Expert Opin Drug Deliv. 2015 Feb;12(2):283-96. doi: 10.1517/17425247.2015.966682. Epub 2014 Dec 16.

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers. Stenger EO, Kazi Z, Lisi E, Gambello MJ, Kishnani P. Mol Genet Metab Rep. 2015 Sep 1;4:30-34. doi: 10.1016/j.ymgmr.2015.05.004.

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8. doi: 10.1016/j.ymgme.2015.06.002. Epub 2015 Jun 17.

Neurological aspects of human glycosylation disorders. Freeze HH, Eklund EA, Ng BG, Patterson MC. Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2.

Premature pubarche in children with Pompe disease. Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.

Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Shapiro EG, Nestrasil I, Ahmed A, Wey A, Rudser KR, Delaney KA, Rumsey RK, Haslett PA, Whitley CB, Potegal M. Mol Genet Metab. 2015 Apr;114(4):594-8. doi: 10.1016/j.ymgme.2015.02.008. Epub 2015 Mar 5.

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.

Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. J Pediatr. 2014 May;164(5):1147-1151.e1. doi: 10.1016/j.jpeds.2014.01.007. Epub 2014 Feb 25.

Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. Stevenson DA, Rudser K, Kunin-Batson A, Fung EB, Viskochil D, Shapiro E, Orchard PJ, Whitley CB, Polgreen LE. J Pediatr Rehabil Med. 2014;7(2):159-65. doi: 10.3233/PRM-140285.

Brave New World. Patterson MC. Child Neurol Open. 2014 Aug 26;1(1):2329048X14542399. doi: 10.1177/2329048X14542399. eCollection 2014 Jul-Sep.

Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS. Mol Genet Metab. 2014 Feb;111(2):128-32. doi: 10.1016/j.ymgme.2013.11.001. Epub 2013 Nov 12.

Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Polgreen LE, Thomas W, Orchard PJ, Whitley CB, Miller BS. Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11.

Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. Taylor NE, Dengel DR, Lund TC, Rudser KD, Orchard PJ, Steinberger J, Whitley CB, Polgreen LE. J Pediatr Rehabil Med. 2014;7(4):353-60. doi: 10.3233/PRM-140305.

Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al. Prater SN, Banugaria SG, Morgan C, Sung CC, Rosenberg AS, Kishnani PS. J Inherit Metab Dis. 2014 Jan;37(1):141-3. doi: 10.1007/s10545-013-9637-8. Epub 2013 Jul 26.

Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. Polgreen LE, Thomas W, Fung E, Viskochil D, Stevenson DA, Steinberger J, Orchard P, Whitley CB, Ensrud KE. J Clin Densitom. 2014 Jan-Mar;17(1):200-6. doi: 10.1016/j.jocd.2013.03.004. Epub 2013 Apr 2.

Lysosomal Disease Network's WORLD Symposium™ 2014. None listed. Mol Genet Metab. 2014 Feb;111(2):S2-6. doi: 10.1016/j.ymgme.2014.01.003. Epub 2014 Jan 9.

Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. Delaney KA, Rudser KR, Yund BD, Whitley CB, Haslett PA, Shapiro EG. JIMD Rep. 2014;13:129-37. doi: 10.1007/8904_2013_269. Epub 2013 Nov 5.

Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. Mauer M, Glynn E, Svarstad E, Tøndel C, Gubler MC, West M, Sokolovskiy A, Whitley C, Najafian B. PLoS One. 2014 Nov 11;9(11):e112188. doi: 10.1371/journal.pone.0112188. eCollection 2014.

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N, Delaney K, Yund B, Shapiro E. Mol Genet Metab. 2014 Feb;111(2):123-7. doi: 10.1016/j.ymgme.2013.11.014. Epub 2013 Dec 12.

Quantitative neuroimaging in mucolipidosis type IV. Schiffmann R, Mayfield J, Swift C, Nestrasil I. Mol Genet Metab. 2014 Feb;111(2):147-51. doi: 10.1016/j.ymgme.2013.11.007. Epub 2013 Nov 21.

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013.

Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. Dyke JP, Sondhi D, Voss HU, Shungu DC, Mao X, Yohay K, Worgall S, Hackett NR, Hollmann C, Yeotsas ME, Jeong AL, Van de Graaf B, Cao I, Kaminsky SM, Heier LA, Rudser KD, Souweidane MM, Kaplitt MG, Kosofsky B, Crystal RG, Ballon D. AJNR Am J Neuroradiol. 2013 Apr;34(4):884-9. doi: 10.3174/ajnr.A3297. Epub 2012 Oct 4.

Basilar artery aneurysm: a new finding in classic infantile Pompe disease. Patel TT, Banugaria SG, Frush DP, Enterline DS, Tanpaiboon P, Kishnani PS. Muscle Nerve. 2013 Apr;47(4):613-5. doi: 10.1002/mus.23659. Epub 2013 Feb 10.

Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. Dolisca SB, Mehta M, Pearce DA, Mink JW, Maria BL. J Child Neurol. 2013 Sep;28(9):1074-100. doi: 10.1177/0883073813493665. Epub 2013 Jul 9.

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani PS. Genet Med. 2013 Feb;15(2):123-31. doi: 10.1038/gim.2012.110. Epub 2012 Oct 11.

Classification and natural history of the neuronal ceroid lipofuscinoses. Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9.

Clinical trials in rare disease: challenges and opportunities. Augustine EF, Adams HR, Mink JW. J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, Whitley CB, Shapiro EG. J Pediatr. 2013 Feb;162(2):375-80.e1. doi: 10.1016/j.jpeds.2012.07.052. Epub 2012 Sep 10.

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P. Pediatr Res. 2013 Dec;74(6):712-20. doi: 10.1038/pr.2013.158. Epub 2013 Sep 3.

Lysosomal Disease Network's WORLD Symposium™ 2013. Whitley C. Mol Genet Metab. 2013 Feb;108(2):S2-7. doi: 10.1016/j.ymgme.2012.12.003. Epub 2012 Dec 25.

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW; Batten Study Group. Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome. Potegal M, Yund B, Rudser K, Ahmed A, Delaney K, Nestrasil I, Whitley CB, Shapiro EG. J Clin Exp Neuropsychol. 2013;35(6):608-16. doi: 10.1080/13803395.2013.804035. Epub 2013 Jun 8.

N-Acetylcysteine boosts brain and blood glutathione in Gaucher and Parkinson diseases. Holmay MJ, Terpstra M, Coles LD, Mishra U, Ahlskog M, Öz G, Cloyd JC, Tuite PJ. Clin Neuropharmacol. 2013 Jul-Aug;36(4):103-6. doi: 10.1097/WNF.0b013e31829ae713.

NCL diseases - clinical perspectives. Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.

Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). Adams HR, Mink JW; University of Rochester Batten Center Study Group. J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.

Renal complications of Fabry disease in children. Najafian B, Mauer M, Hopkin RJ, Svarstad E. Pediatr Nephrol. 2013 May;28(5):679-87. doi: 10.1007/s00467-012-2222-9. Epub 2012 Aug 17.

An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Shapiro E, Guler OE, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard P, Provenzale J, Thomas KM. Mol Genet Metab. 2012 Sep;107(1-2):116-21. doi: 10.1016/j.ymgme.2012.07.016. Epub 2012 Jul 20.

Females experience a more severe disease course in Batten disease. Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW. J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14.

Lysosomal Disease Network's WORLD Symposium™ 2012. Whitley CB. Mol Genet Metab. 2012 Feb;105(2):S3-6. doi: 10.1016/j.ymgme.2011.12.001. Epub 2011 Dec 7.

Neurology of inherited glycosylation disorders. Freeze HH, Eklund EA, Ng BG, Patterson MC. Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6.

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, Charrow J, Chen YT, Kishnani PS. Mol Genet Metab. 2012 Apr;105(4):677-80. doi: 10.1016/j.ymgme.2012.01.019. Epub 2012 Jan 28.

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Blood. 2012 May 17;119(20):4731-40. doi: 10.1182/blood-2011-10-386862. Epub 2012 Apr 4.

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.

The emerging phenotype of long-term survivors with infantile Pompe disease. Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. Genet Med. 2012 Sep;14(9):800-10. doi: 10.1038/gim.2012.44. Epub 2012 Apr 26.

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, Conway R, Kishnani PS. Mol Genet Metab. 2011 Sep-Oct;104(1-2):118-22. doi: 10.1016/j.ymgme.2011.07.004. Epub 2011 Jul 13.

Atypical immunologic response in a patient with CRIM-negative Pompe disease. Abbott MA, Prater SN, Banugaria SG, Richards SM, Young SP, Rosenberg AS, Kishnani PS. Mol Genet Metab. 2011 Dec;104(4):583-6. doi: 10.1016/j.ymgme.2011.08.003. Epub 2011 Aug 11.

Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients. Dickson PI, Chen AH. Curr Pharm Biotechnol. 2011 Jun;12(6):946-55. doi: 10.2174/138920111795542642.

Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy. Kerr DA, Memoli VA, Cathey SS, Harris BT. Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.5858/2010-0236-CR.1.

Natural history of infantile G(M2) gangliosidosis. Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10.

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel C, Whitley C, Mauer M. Kidney Int. 2011 Mar;79(6):663-670. doi: 10.1038/ki.2010.484. Epub 2010 Dec 15.

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.

Quantitating glomerular endothelial fenestration: an unbiased stereological approach. Najafian B, Mauer M. Am J Nephrol. 2011;33 Suppl 1(Suppl 1):34-9. doi: 10.1159/000327075. Epub 2011 Jun 10.

Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW. Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19.

Research challenges in central nervous system manifestations of inborn errors of metabolism. Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2.

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.

Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses. Sowell J, Wood T. Anal Chim Acta. 2011 Feb 7;686(1-2):102-6. doi: 10.1016/j.aca.2010.11.047. Epub 2010 Dec 7.

Assessment of renal pathology and dysfunction in children with Fabry disease. Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG. Clin J Am Soc Nephrol. 2010 Feb;5(2):365-70. doi: 10.2215/CJN.08091109. Epub 2010 Jan 7.

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.

Growth patterns and the use of growth hormone in the mucopolysaccharidoses. Polgreen LE, Miller BS. J Pediatr Rehabil Med. 2010;3(1):25-38. doi: 10.3233/PRM-2010-0106.

Movers and shakers: diagnosing neurotransmitter diseases with CSF. Patterson MC. Neurology. 2010 Jul 6;75(1):15-7. doi: 10.1212/WNL.0b013e3181e9aeea. Epub 2010 Jun 9.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.

The natural history and osteodystrophy of mucolipidosis types II and III. David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.