3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency-Reference-Cited by-同舟云学术

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Published:2017-08 Issue: Volume:471 Page:95-100
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Rokicki Dariusz,Pajdowska Magdalena,Trubicka Joanna,Thong Meow-Keong,Ciara Elżbieta,Piekutowska-Abramczuk Dorota,Pronicki Maciej,Sikora Roman,Haidar Rijad,Ołtarzewski Mariusz^ORCID,Jabłońska Ewa,Muthukumarasamy Premala,Sthaneswar Pavai,Gan Chin-Seng,Krajewska-Walasek Małgorzata,Carrozzo Rosalba,Verrigni Daniela,Semeraro Michela,Rizzo Cristiano,Taurisano Roberta,Alhaddad Bader,Kovacs-Nagy Reka,Haack Tobias B.,Dionisi-Vici Carlo,Pronicka Ewa,Wortmann Saskia B.

Funder

The Children's Memorial Health Institute

BMBF

Dutch Society for the Study of Inborn Errors of Metabolism

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference20 articles.

1. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder;Wortmann;Am. J. Hum. Genet.,2015

2. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness;Wortmann;Nat. Genet.,2012

3. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy;Wortmann;Neurology,2010