Propionic acidemia: mutation update and functional and structural effects of the variant alleles-Reference-Cited by-同舟云学术

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

Published:2004-09 Issue:1-2 Volume:83 Page:28-37
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Desviat L.R.,Pérez B.,Pérez-Cerdá C.,Rodríguez-Pombo P.,Clavero S.,Ugarte M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference54 articles.

1. Disorders of propionate and methylmalonate metabolism.;Fenton,2001

2. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients;Lehnert;Eur. J. Pediatr.,1994

3. Propionic acidemia: unusual course with late onset and fatal outcome;Lucke;Metabolism,2004

4. An unusual Late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutational analysis;Pérez-Cerdá;Eur. J. Pediatr.,1998

5. Potential relationship between genotype and clinical outcome in propionic acidaemia patients;Perez-Cerda;Eur. J. Hum. Genet.,2000

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