Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct-Reference-Cited by-同舟云学术

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Published:2000-09 Issue:3 Volume:48 Page:315-322
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Busquets Christiane,Merinero Begoña,Christensen Ernst,Gelpí Josep Lluís,Campistol Jaume,Pineda Mercè,Fernández-Alvarez Emilio,Prats José M,Sans Ana,Arteaga Rosa,Martí Milagros,Campos Jaime,Martínez-Pardo Mercedes,Martínez-Bermejo Antonio,Vaquerizo Julián Ó,Orozco Modesto,Ugarte Magdalena,Coll M Josep,Ribes Antonia

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference47 articles.

1. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions

2. Diagnosis and management of glutaric aciduria type I

3. Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy

4. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

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