scholarly journals A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

2022 ◽  
Author(s):  
Shunichi Shirakawa ◽  
Tatufumi Murakami ◽  
Akihiro Hashiguchi ◽  
Hiroshi Takashima ◽  
Hiroshi Hasegawa ◽  
...  
Keyword(s):  
Japanese Patient

Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

1997 ◽  
Vol 61 (6) ◽  
pp. 491-496 ◽  
Author(s):  
K. HIDAKA ◽  
I. IUCHI ◽  
M. TOMITA ◽  
Y. WATANABE ◽  
Y. MINATOGAWA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patient

scholarly journals Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 849-852 ◽  
Author(s):  
Sanae Numata ◽  
Takahiro Hamada ◽  
Kwesi Teye ◽  
Mitsuhiro Matsuda ◽  
Norito Ishii ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Chromosome 5 ◽  
Netherton Syndrome

Novel CYP17A1 mutation in a Japanese patient with combined 17α-hydroxylase/17,20-lyase deficiency

Metabolism ◽  
2010 ◽  
Vol 59 (2) ◽  
pp. 275-278 ◽  
Author(s):  
Noriyuki Katsumata ◽  
Eishin Ogawa ◽  
Ikuma Fujiwara ◽  
Kaori Fujikura
Keyword(s):  
Japanese Patient ◽  
Lyase Deficiency

scholarly journals A Japanese Patient with Lipoprotein Lipase Deficiency Homozygous for the Gly188Glu Mutation Prevalent Worldwide

2000 ◽  
Vol 7 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Tomohiko Yoshida ◽  
Takanari Gotoda ◽  
Minoru Okubo ◽  
Yoko Iizuka ◽  
Shun Ishibashi ◽  
...  
Keyword(s):  
Lipoprotein Lipase ◽  
Japanese Patient ◽  
Lipoprotein Lipase Deficiency

Surface dyslexia in a Japanese patient with semantic dementia: evidence for similarity-based orthography-to-phonology translation

2003 ◽  
Vol 41 (12) ◽  
pp. 1644-1658 ◽  
Author(s):  
Takao Fushimi ◽  
Kenjiro Komori ◽  
Manabu Ikeda ◽  
Karalyn Patterson ◽  
Mutsuo Ijuin ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Semantic Dementia ◽  
Surface Dyslexia

scholarly journals Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy

2009 ◽  
Vol 9 (3) ◽  
pp. 185-193 ◽  
Author(s):  
Tomomi Furihata ◽  
Naoki Satoh ◽  
Tomoharu Ohishi ◽  
Miyuki Ugajin ◽  
Yoshio Kameyama ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Japanese Patient ◽  
Slco1b1 Gene

scholarly journals Reversible brain atrophy and cognitive impairment in an adolescent Japanese patient with primary adrenal Cushing’s syndrome

2014 ◽  
pp. 1763 ◽  
Author(s):  
Nobumasa Ohara ◽  
Hiroshi Suzuki ◽  
Akiko Suzuki ◽  
Masanori Kaneko ◽  
Masahiro Ishizawa ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Brain Atrophy ◽  
Japanese Patient
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