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Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
Cobalamin D Deficiency Identified Through Newborn Screening.
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.