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amino acid metabolism, inborn errors
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Curated Studies
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OMIM - Congenital disorder
OMIM - Metabolic disease
Mouse Phenotypes - Metabolic disease
OMIM - Anemia disorders
Mouse Phenotypes - Autosomal recessive hereditary disorder
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Literature
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Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.
Reversible dementia in young persons due to cobalamin deficiency.
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic ac…
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase defic…
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Clinical Trials
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Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Interven…
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