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UCSF School of Medicine | Department of Pediatrics UCSF Medical Center

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

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Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.

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Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.

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Cobalamin D Deficiency Identified Through Newborn Screening.

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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.

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Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

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Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

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Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

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

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