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Multiple syndromes of 3-methylglutaconic aciduria

Published:1993-03 Issue:2 Volume:9 Page:120-123
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Gibson K.Michael,Elpeleg Orly N.,Jakobs Cornelius,Costeff Hanan,Kelley Richard I.

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. Shunt pathway of mevalonate metabolism;Landau;Methods Enzymol,1985

2. 3-Methylglutaconic aciduria: A phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal;Gibson;Eur J Pediatr,1988

3. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria;Gibson;J Pediatr,1991

4. 3-Methylglutaconyl-coenzyme-A hydratase deficiency: A new case;Gibson;J Inherited Metab Dis,1992

5. Siblings with 3-methylglutaconic aciduria presenting at birth;Schneider;Am J Hum Genet,1990

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1. Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias;Biochimie;2020-01

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3. Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function;PLOS ONE;2016-03-25

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