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Literature DB >> 15719488

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

Meral Gunay-Aygun¹.

Abstract

Mesh：

Substances：

Year: 2005 PMID： 15719488 DOI： 10.1016/j.ymgme.2004.12.003

Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797

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7 in total

1. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Authors: Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi-Vici
Journal: J Inherit Metab Dis Date: 2006-05-30 Impact factor: 4.982

2. A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

Authors: Wuhong Pei; Lisa E Kratz; Isa Bernardini; Raman Sood; Tohei Yokogawa; Heidi Dorward; Carla Ciccone; Richard I Kelley; Yair Anikster; Harold A Burgess; Marjan Huizing; Benjamin Feldman
Journal: Development Date: 2010-08-01 Impact factor: 6.868

3. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Authors: K M Davey; J S Parboosingh; D R McLeod; A Chan; R Casey; P Ferreira; F F Snyder; P J Bridge; F P Bernier
Journal: J Med Genet Date: 2005-07-31 Impact factor: 6.318

4. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Authors: Carol Saunders; Laurie Smith; Flemming Wibrand; Kirstine Ravn; Peter Bross; Isabelle Thiffault; Mette Christensen; Andrea Atherton; Emily Farrow; Neil Miller; Stephen F Kingsmore; Elsebet Ostergaard
Journal: Am J Hum Genet Date: 2015-01-15 Impact factor: 11.025

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

1. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

2. A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

3. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

4. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Review 5. The 3-methylglutaconic acidurias: what's new?

6. Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

7. Disorders of branched chain amino acid metabolism.