A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

Ans T. van der Ploeg, Paula R. Clemens, Deyanira Corzo, +20

New England Journal of Medicine

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh‐Liang Hwu, Hanna Mandel, +3

The Journal of Pediatrics

PathogenesisNatural HistoryPediatricsInfantile-onset Pompe DiseaseMulticenter Study +1

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Priya S. Kishnani, Marc Nicolino, Thomas Voït, +10

The Journal of Pediatrics

Autoimmune DiseasePathogenesisImmunologyGynecologyPathology +3

Clinical features of late‐onset Pompe disease: A prospective cohort study

John H. J. Wokke, Diana M. Escolar, Alan Pestronk, +8

Muscle & Nerve

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

Yan An, Sarah P. Young, Priya S. Kishnani, +4

Molecular Genetics and Metabolism

Pompe DiseaseBiomarker (Medicine)BiochemistryMedicineBioanalysis +12

Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis

Daniel Gaudet, Erik S.G. Stroes, Julie Méthot, +12

Human Gene Therapy

Metabolic SyndromeTranslational MedicineAlipogene TiparvovecPancreatic CancerRecurrent Pancreatitis +11

Nephrotic Syndrome Complicating α-Glucosidase Replacement Therapy for Pompe Disease

Tracy E. Hunley, Deyanira Corzo, Martha Dudek, +7

PEDIATRICS

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

Sarah P. Young, Haoyue Zhang, Deyanira Corzo, +4

Genetics in Medicine

UrologyLong-term MonitoringEnzyme Replacement TherapyDiabetesPediatrics +4

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Deyanira Corzo, William T. Gibson, Kisha Johnson, +13

The American Journal of Human Genetics

Adrenal GlandMendelian DisorderX-linked Adrenoleukodystrophy GeneGenetic DisorderGenetics +6

Tumor Necrosis Factor Constellation Polymorphism and Clozapine-Induced Agranulocytosis in Two Different Ethnic Groups

David Turbay, Jeffrey A. Lieberman, Chester A. Alper, +4

Blood