Reactome | Ugarte, M

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created	[InstanceEdit:200252] D'Eustachio, P, 2007-07-16 20:10:20
dbId	200214
displayName	Ugarte, M
firstname	Magdalena
initial	M
publications	[LiteratureReference:9912496] A novel regulatory defect in the branched-chain ?-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease [LiteratureReference:517439] Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III [LiteratureReference:200206] Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient [LiteratureReference:5693166] Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients [LiteratureReference:2466343] A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins [LiteratureReference:9858041] Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
schemaClass	Person
surname	Ugarte

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