scholarly journals Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

2018 ◽  
Vol 6 (10) ◽  
pp. 1989-1993 ◽  
Author(s):  
Wenjie Li ◽  
Xianze Meng ◽  
Weiqing Wang ◽  
Jinfeng Lv ◽  
Yingmei Sun ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Maple Syrup ◽  
Urine Disease ◽  
Silico Analysis

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

2009 ◽  
Vol 32 (S1) ◽  
pp. 33-36 ◽  
Author(s):  
R. Tammachote ◽  
S. Tongkobpetch ◽  
T. Desudchit ◽  
K. Suphapeetiporn ◽  
V. Shotelersuk
Keyword(s):  
Prenatal Diagnosis ◽  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Urine Disease

Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease

2011 ◽  
Vol 24 (9-10) ◽  
Author(s):  
Jian Wang ◽  
Hongjing Liu ◽  
Guoqiang Chen ◽  
Sian Hsiang-Te Tsuei ◽  
Tingting Yu ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Patient ◽  
Maple Syrup ◽  
Urine Disease

In silico analysis of novel mutations in maple syrup urine disease patients from Iran

2016 ◽  
Vol 32 (1) ◽  
pp. 105-113 ◽  
Author(s):  
Maryam Abiri ◽  
Razieh Karamzadeh ◽  
Marziyeh Mojbafan ◽  
Mohammad Reza Alaei ◽  
Atefeh Jodaki ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
In Silico ◽  
In Silico Analysis ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Urine Disease ◽  
Silico Analysis

scholarly journals A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease

2016 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Esmat Safdarian ◽  
Hamid Galehdari ◽  
Vahab Jafarian ◽  
Mohammad Shafee ◽  
Gholamreza Shariati ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Iranian Child ◽  
Urine Disease ◽  
Bckdhb Gene

Fatal course of maple syrup urine disease (MSUD) encephalopathy in a 6 year old boy with characteristic MRI-changes

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
V Boda ◽  
S Vlaho ◽  
S Dittrich ◽  
M Baz Bartels ◽  
S Parbel ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Fatal Course ◽  
Urine Disease ◽  
Mri Changes

scholarly journals Pregnancy in an adolescent with maple syrup urine disease: Case report

2021 ◽  
Vol 27 ◽  
pp. 100745
Author(s):  
Michelle E. Abadingo ◽  
Mary Ann R. Abacan ◽  
Jeanne Ruth U. Basas ◽  
Carmencita D. Padilla
Keyword(s):  
Case Report ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Disease Case ◽  
Urine Disease
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