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Publications by Priya S. Kishnani
Response to Reuser
Genetics in Medicine
Medicine
Genetics
Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement
Pediatrics
Child Health
Pediatrics
Perinatology
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease
Pediatrics
Child Health
Pediatrics
Perinatology
Pompe Disease Results in a Golgi-Based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy
Journal of Pediatric Ophthalmology and Strabismus
Medicine
Child Health
Ophthalmology
Pediatrics
Perinatology
Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
Journal of Inborn Errors of Metabolism and Screening
Child Health
Genetics
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients With Infantile- And Late-Onset Pompe Disease Identified by Newborn Screening
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Donepezil for the Treatment of Language Deficits in Adults With Down Syndrome: A Preliminary 24-Week Open Trial
American Journal of Medical Genetics