Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit-Reference-Cited by-同舟云学术

Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

Published:2009-10 Issue:5 Volume:13 Page:657-664
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Georgiou Theodoros¹,Chuang Jacinta L.²,Wynn R. Max²,Stylianidou Goula³,Korson Mark⁴,Chuang David T.²,Drousiotou Anthi¹

Affiliation:

1. Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

2. Departments of Biochemistry and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.

3. Department of Pediatric Neurology, Archbishop Makarios III Hospital, Nicosia, Cyprus.

4. Children's Hospital, Boston, Massachusetts.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0065

Reference25 articles.

1. Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

2. Maple syrup urine disease: It has come a long way

3. Diagnosis and Mutational Analysis of Maple Syrup Urine Disease Using Cell Cultures

4. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.

Cited by 7 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. Inherited metabolic disorders in Cyprus;Molecular Genetics and Metabolism Reports;2024-06

2. A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease;Journal of Mass Spectrometry and Advances in the Clinical Lab;2022-04

3. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population;Scientific Reports;2021-09-23

4. Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease;Molecular Genetics & Genomic Medicine;2020-06-09

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