Literature DB >> 10989451

Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism.

K M Gibson1, M Ugarte, T Fukao, G A Mitchell.   

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Year:  2000        PMID： 10989451     DOI： 10.1016/s0076-6879(00)24252-3

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN： 0076-6879            Impact factor:   1.600


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  4 in total

1.  The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Authors:  M E Gallardo; L R Desviat; J M Rodríguez; J Esparza-Gordillo; C Pérez-Cerdá; B Pérez; P Rodríguez-Pombo; O Criado; R Sanz; D H Morton; K M Gibson; T P Le; A Ribes; S R de Córdoba; M Ugarte; M A Peñalva
Journal:  Am J Hum Genet       Date:  2001-01-17       Impact factor: 11.025

Review 2.  Propionyl-CoA carboxylase - A review.

Authors:  Parith Wongkittichote; Nicholas Ah Mew; Kimberly A Chapman
Journal:  Mol Genet Metab       Date:  2017-10-07       Impact factor: 4.797

Review 3.  Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

Authors:  Ina Knerr; Natalie Weinhold; Jerry Vockley; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2011-02-03       Impact factor: 4.982

4.  Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Authors:  Stéphanie Paquay; Agnès Bourillon; Samia Pichard; Jean-François Benoist; Pascale de Lonlay; Dries Dobbelaere; Alain Fouilhoux; Nathalie Guffon; Isabelle Rouvet; François Labarthe; Karine Mention; Guy Touati; Vassili Valayannopoulos; Hélène Ogier de Baulny; Monique Elmaleh-Bergès; Cécile Acquaviva-Bourdain; Christine Vianey-Saban; Manuel Schiff
Journal:  J Inherit Metab Dis       Date:  2017-03-02       Impact factor: 4.982
  4 in total

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