Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism-Reference-Cited by-同舟云学术

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

Published:2000-12 Issue:6 Volume:48 Page:852-855
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Zschocke Johannes,Ruiter Jos P N,Brand Jochen,Lindner Martin,Hoffmann Georg F,Wanders Ronald J A,Mayatepek Ertan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference8 articles.

1. 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

2. Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine Metabolism

3. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

4. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

5. A Patient with Severe Neurologic Symptoms and Acetoacetyl-CoA Thiolase Deficiency

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