Triple-A Syndrome - The First Chinese Patient with Novel Mutations in the AAAS Gene

2006 ◽  
Vol 19 (5) ◽  
Author(s):  
Y.Y. Lam ◽  
I.F.M. Lo ◽  
C.C. Shek ◽  
T.M.F. Tong ◽  
D.K.K. Ng ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Triple A Syndrome ◽  
Novel Mutations ◽  
Aaas Gene

scholarly journals Triple A syndrome: two novel mutations in the AAAS gene

2009 ◽  
Vol 2009 (apr07 1) ◽  
pp. bcr0920080984-bcr0920080984 ◽  
Author(s):  
S. Thummler ◽  
A. Huebner ◽  
E. Baechler-Sadoul
Keyword(s):  
Triple A Syndrome ◽  
Novel Mutations ◽  
Aaas Gene

Novel Mutations in LRTOMT Associated with Congenital Profound Sensorineural Hearing Loss in a Chinese Patient

2021 ◽  
Vol 57 (11) ◽  
pp. 1322-1327
Author(s):  
Y. Wang ◽  
Y. Ma ◽  
Y. Qin ◽  
Zh. Zeng ◽  
Zh. Zhong ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Chinese Patient ◽  
Sensorineural Hearing ◽  
Novel Mutations

scholarly journals Triple A syndrome: two siblings with a novel mutation in the AAAS gene

HORMONES ◽  
2019 ◽  
Vol 18 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Athanasia Bouliari ◽  
Xuexin Lu ◽  
Rebecca W. Persky ◽  
Constantine A. Stratakis
Keyword(s):  
Novel Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 58 (6) ◽  
pp. 962-965 ◽  
Author(s):  
C. Goizet ◽  
B. Catargi ◽  
F. Tison ◽  
A. Tullio-Pelet ◽  
S. Hadj-Rabia ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient

2013 ◽  
Vol 425 ◽  
pp. 125-127 ◽  
Author(s):  
Sun Young Cho ◽  
Tak-Shing Siu ◽  
Oliver Ma ◽  
Sidney Tam ◽  
Ching-wan Lam
Keyword(s):  
Chinese Patient ◽  
Carnitine Palmitoyltransferase ◽  
Novel Mutations ◽  
Carnitine Palmitoyltransferase Ii

Presence of two novel mutations of the ALPL gene in a Chinese patient with hypophosphatasia

Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S429
Author(s):  
Haijuan Liu ◽  
Mei Li ◽  
Xiaoping Xing ◽  
Weibo Xia ◽  
Wei Yu ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Novel Mutations

scholarly journals A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome

2009 ◽  
Vol 18 (2) ◽  
pp. 73-75 ◽  
Author(s):  
Tony Huynh ◽  
Ivan McGown ◽  
Ohn Nyunt ◽  
David Cowley ◽  
Mark Harris ◽  
...  
Keyword(s):  
Triple A Syndrome ◽  
Aaas Gene
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