Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals-Reference-Cited by-同舟云学术

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Published:2017-03 Issue: Volume:10 Page:92-95
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Pérez-López J.,Ceberio-Hualde L.,García-Morillo J.S.,Grau-Junyent J.M.,Hermida Ameijeiras A.,López-Rodríguez M.,Milisenda J.C.,Moltó Abad M.,Morales-Conejo M.,Nava Mateos J.J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference15 articles.

1. Inborn errors of metabolism;Waber;Pediatr. Ann.,1990

2. Biochemical diagnosis of genetic diseases;Wappner;Pediatr. Ann.,1993

3. Clinical phenotypes: diagnosis/algorithms;Saudubray,1995

4. Newborn screening for inborn errors of metabolism: a systematic review;Seymor;Health Technol. Assess.,1997

5. Zur Behandlungssituation erwachsener Patienten mit angeborenen Stoffwechselkrankheiten

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