Incidence of maple syrup urine disease in Portugal-Reference-Cited by-同舟云学术

Incidence of maple syrup urine disease in Portugal

Published:2010-08 Issue:4 Volume:100 Page:385-387
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Quental Sofia,Vilarinho Laura,Martins Esmeralda,Teles Elisa Leão,Rodrigues Esmeralda,Diogo Luísa,Garcia Paula,Eusébio Filomena,Gaspar Ana,Sequeira Sílvia,Amorim António,Prata Maria João

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. Maple syrup urine disease (branched-chain ketoaciduria);Chuang,2001

2. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification;Heldt;Mol. Genet. Metab.,2005

3. Diagnosis and treatment of maple syrup disease: a study of 36 patients;Morton;Pediatrics,2002

4. Diagnóstico precoce: resultados preliminares do rastreio metabólico alargado;Vilarinho;Acta Pediátr. Port.,2006

5. Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination;Quental;J. Inherit. Metab. Dis.,2008

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4. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity;Orphanet Journal of Rare Diseases;2020-11-01

5. Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data;Journal of Inherited Metabolic Disease;2020-10-29