Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease-Reference-Cited by-同舟云学术

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease

Published:2013-01-01 Issue:9-10 Volume:26 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Ali Ernie Zuraida,Yunus Zabedah Md,Desa Norsiah Md,Hock Ngu Lock

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2012-0424/pdf

Reference30 articles.

1. Thong Spectrum of inherited metabolic disorders in Malaysia;Yunus;Ann Acad Med,2008

2. Molecular mechanism for regulation of the human mitochondrial branched - chain alpha - ketoacid dehydrogenase complex by phosphorylation Structure;Wynn,2004

3. Gene preference in maple syrup urine disease Report;Mary;Am J Hum Genet,2001

4. Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease;Wang;J Pediatr Endocr Met,2011

5. Maple syrup urine disease in the old order Mennonites a;Marshall;Am J Hum Genet,1981

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population;Molecular Genetics and Metabolism Reports;2018-12

2. Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease;Clinical Case Reports;2018-09-03

3. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity;Journal of Pediatric Endocrinology and Metabolism;2016-01-01

4. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD);Journal of Pediatric Endocrinology and Metabolism;2015-01-01