Fukao T. Beta-ketothiolase deficiency. Orphanet encyclopedia; 2004. Disponible a : https://www.orpha.net/data/patho/GB/uk-T2.pdf.Fukao T. Beta-ketothiolase deficiency. Orphanet encyclopedia, September 2004, Updated Feb...
(2002) Constitutive expression of the beta-ketothiolase gene in ... K Bohmert,I Balbo,A Steinbuchel,... - 《Plant Physiology》 被引量: 199发表: 2002年 Congestive cardiomyopathy associated with β-ketothiolase deficiency† Henry, CG, Strauss, AW, Keating, JP, Hillman, RE (1981) ...
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses.identity by descentgene mappingtwo-locus modelsmultipointvariance components1. A human peroxisome assembly factor-1 (PAF-1) complementary DNA has been cloned that restores the morphological and biochemical ...
Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. The disease is characterized by attacks. Ketoacidosis, vomiting and dehydration, lethargy and coma may be seen during attacks. A 15-month-old male was admitted to our hospital with severe ...
Challenges in the diagnosis of methylacetoacetyl-coenzymeAthiolase (beta-ketothiolase) deficiencyJ.O., SassS., ReichlL., BahrC., BritschgiK., BilicM., CukV., SarnavkaL., PalezacI., BaricK., Fumic
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We conclude that clinical consequences of T2 deficiency are avoidable with early diagnosis, appropriate management of ketoacidosis, and modest protein restriction. 展开 关键词: acetoacetyl-CoA thiolase β-ketothiolase deficiency thiolase mutation phenotype/genotype correlation questionnaire T2 enzyme ...
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网络酮硫解酶 网络释义 1. 酮硫解酶 中英文医... ... β受体, 肾上腺素能 beta-Blockers,Adrenergic β酮硫解酶beta-Ketothiolaseα-L-岩藻糖苷酶 alpha-L-Fucosidase ... www.5ibio.com|基于3个网页
T. Mechanistic studies on beta-ketoacyl thiolase from Zoogloea ramigera: identification of the active-site nucleophile as Cys89, its mutation to Ser89, and kinetic and thermodynamic characterization of wild-type and mutant enzymes. Biochemistry 1989, 28, 5735-5742....