scholarly journals A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome

2016 ◽  
Vol 56 (6) ◽  
pp. 424-429
Author(s):  
Mio Hamatani ◽  
Naoto Jingami ◽  
Kengo Uemura ◽  
Naoe Nakasone ◽  
Hisanori Kinoshita ◽  
...  
Keyword(s):  
Disease Type ◽  
Biochemical Phenotype ◽  
Niemann Pick Disease ◽  
Savant Syndrome ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1

2003 ◽  
Vol 22 (4) ◽  
pp. 313-325 ◽  
Author(s):  
Walter D. Park ◽  
John F. O'Brien ◽  
Patrick A. Lundquist ◽  
Daniel L. Kraft ◽  
Cate Walsh Vockley ◽  
...  
Keyword(s):  
Disease Type ◽  
Biochemical Phenotype ◽  
Novel Mutations ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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