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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.
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.
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).