(PDF) Mitochondrial Acetoacetyl-CoA Thiolase (T2)

Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients With “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay With Tiglyl-CoA

Pediatric Research - United States

doi 10.1203/01.pdr.0000129657.48122.52

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July 1, 2004

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Springer Nature

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Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients With “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay With Tiglyl-CoA

Pediatric Research - United States

doi 10.1203/01.pdr.0000129657.48122.52

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Essential Fatty Acid Deficiency in Very Long-Chain Acyl-Coa Dehydrogenase Deficient Patients

A Kinetic Investigation of the Acyl-CoA Oxidase Reaction With the Use of a Novel Spectrophotometric Assay. Inhibition by Acetyl-CoA, CoA and FMN

Enzymes Catalyzing Crotonyl-CoA Conversion to Acetoacetyl-CoA During the Autotrophic CO2 Fixation in Metallosphaera Sedula

Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.

A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

Glutaryl-CoA Dehydrogenase Deficiency

A Nonsense Mutation in the 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene Produces Exon Skipping in Two Patients of Different Origin With 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

A Conserved Mammalian Mitochondrial Isoform of Acetyl-CoA Carboxylase ACC1 Provides the Malonyl-CoA Essential for Mitochondrial Biogenesis in Tandem With ACSF3

P426 Profound Metabolic Acidosis and Hypertriglyceridaemia in Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Synthase- 2 Deficiency (HMGCS2D)