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for
lyase deficiency
Summary
General Info
Curated Studies
Most Correlated Studies
OMIM - Congenital disorder
OMIM - Metabolic disease
OMIM - Disorder of amino acid metabolism
Mouse Phenotypes - Autosomal recessive hereditary disorder
Liver gene expression disruptions caused by S1P lyase deficiency in mice
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Literature
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Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate …
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c…
In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-…
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven case…
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Clinical Trials
Most Relevant Clinical Trials
Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
Mutation Analysis of 17α-Hydroxylase
Nitric Oxide Supplementation in Argininosuccinic Aciduria
Systemic Biomarkers of Brain Injury From Hyperammonemia
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