Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis-Reference-Cited by-同舟云学术

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

Published:2013-07 Issue:4 Volume:17 Page:383-389
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Couce Ma Luz,López-Suárez Olalla,Bóveda Ma Dolores,Castiñeiras Daisy E.,Cocho José A.,García-Villoria Judith,Castro-Gago Manuel,Fraga José Ma,Ribes Antonia

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia;Goodman,2001

2. Glutaric aciduria; a “new” disorder of amino acid metabolism;Goodman;Biochem Med,1975

3. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I);Kölker;J Inherit Metab Dis,2007

4. Diagnosis and management of glutaric aciduria type I – revised recommendations;Kölker;J Inherit Metab Dis,2011

5. Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1;Mushimoto;Mol Genet Metab,2011

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