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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.
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Cobalamin D Deficiency Identified Through Newborn Screening.
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.