Reactome | Fukao, T

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dbId	70841
displayName	Fukao, T
firstname	Toshiyuki
initial	T
publications	[LiteratureReference:9915313] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency [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:9915309] Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure [LiteratureReference:2210386] Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease) [LiteratureReference:508383] Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function [LiteratureReference:83544] Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. [LiteratureReference:9931879] Biallelic GALM pathogenic variants cause a novel type of galactosemia
schemaClass	Person
surname	Fukao

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