Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation-Reference-Cited by-同舟云学术

Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

Published:2014-06-30 Issue:1 Volume:11 Page:22-26
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Ko Jung Min¹²,Shin Choong Ho¹,Yang Sei Won¹,Cheong Hae Il¹²³,Song Junghan⁴

Affiliation:

1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea

2. Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

3. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea

4. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea

Funder

Ministry of Health and Welfare

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2014/011/KSMGG6_2014_v11n1_22.pdf

Reference20 articles.

1. Chuang DT, Shih VE. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. Scriver CR, Beaudet AL, Sly WS, Valle DNew York: McGraw Hill; 2001.

2. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression

3. The prevalence of pediatric endocrine and metabolic diseases in Korea

4. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

5. Classical maple syrup urine disease and brain development: Principles of management and formula design

Cited by 3 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. Spectrum of Genetic Variants Associated with Maple Syrup Urine Disease in the Middle East and North Africa (MENA) Region: A Systematic Review;2024-03-05

2. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease;Journal of Pediatric Endocrinology and Metabolism;2021-12-10

3. Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations;Metabolic Brain Disease;2019-05-22