A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease-Reference-Cited by-同舟云学术

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Published:2012-12-12 Issue:2 Volume:34 Page:355-362
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Oyarzabal Alfonso¹,Martínez-Pardo Mercedes²,Merinero Begoña¹,Navarrete Rosa¹,Desviat Lourdes R¹,Ugarte Magdalena¹,Rodríguez-Pombo Pilar¹

Affiliation:

1. Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular “Severo Ochoa” CSIC-UAM; Departamento de Biología Molecular; Universidad Autónoma de Madrid; CIBERER U746; IDIPAZ; Madrid; Spain

2. Servicio de Pediatría; Hospital Universitario Ramón y Cajal; CIBERER U746; Madrid; Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Defining the pathogenicity of creatine deficiency syndrome;Alcaide;Hum Mutat,2011

2. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype;Cameron;Hum Genet,2009

3. Lessons from genetic disorders of branched-chain amino acid metabolism;Chuang;J Nutr,2006

4. Effects of thiamine in a patient with a variant form of branched-chain ketoaciduria;Duran;Acta Paediatr Scand,1978

5. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease;Flaschker;J Inherit Metab Dis,2007

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