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synthetase deficiency
Summary
General Info
Curated Studies
Most Correlated Studies
OMIM - Metabolic disease
OMIM - Disorder of amino acid metabolism
OMIM - Thrombocytopathy
Kidney expression profile in WT and AT1A receptor-null mice before and after angiotensin II infusion
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Literature
Most Relevant Literature
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese …
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase …
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Management of a patient with holocarboxylase synthetase deficiency.
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Clinical Trials
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Review of French Cases of Glutathione Synthetase Deficiency
Ph 1 Study of ADI PEG 20 in Pediatric Subjects Who Are Argininosuccinate Synthetase (ASS) Deficient
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
Epidemiology of Surfactant Protein-B Deficiency
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
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