Characterization of the GALC Gene in Three Japanese Patients with Adult-Onset Krabbe Disease

1997 ◽  
Vol 1 (3) ◽  
pp. 217-223 ◽  
Author(s):  
YOJI KUKITA ◽  
HIROKAZU FURUYA ◽  
TAKURO KOBAYASHI ◽  
NORIO SAKAI ◽  
KENSHI HAYASHI
Keyword(s):  
Japanese Patients ◽  
Krabbe Disease ◽  
Adult Onset ◽  
Galc Gene

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

1997 ◽  
Vol 100 (3-4) ◽  
pp. 450-456 ◽  
Author(s):  
H. Furuya ◽  
Yoh-ji Kukita ◽  
Sukehisa Nagano ◽  
Yasuyoshi Sakai ◽  
Yoriaki Yamashita ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Krabbe Disease ◽  
Globoid Cell Leukodystrophy ◽  
Adult Onset ◽  
Disease Analysis ◽  
Globoid Cell

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene

2013 ◽  
Vol 35 (6) ◽  
pp. 579-581 ◽  
Author(s):  
Shin-ichi Tokushige ◽  
Tomohiro Sonoo ◽  
Risa Maekawa ◽  
Yuichiro Shirota ◽  
Ritsuko Hanajima ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pyramidal Tract ◽  
Krabbe Disease ◽  
Adult Onset ◽  
Novel Mutations ◽  
The Central Nervous System ◽  
Galc Gene

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

1995 ◽  
Vol 4 (12) ◽  
pp. 2335-2338 ◽  
Author(s):  
Paola Luzi ◽  
Mohammad A. Rafi ◽  
David A. Wenger
Keyword(s):  
Large Deletion ◽  
Krabbe Disease ◽  
Galc Gene

Multiple mutations in the GALC gene in a patient with adult-onset krabbe disease

1996 ◽  
Vol 40 (1) ◽  
pp. 116-119 ◽  
Author(s):  
Paola Luzi ◽  
Mohammad A. Rafi ◽  
David A. Wenger
Keyword(s):  
Krabbe Disease ◽  
Adult Onset ◽  
Galc Gene

scholarly journals Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

2010 ◽  
Vol 31 (12) ◽  
pp. E1894-E1914 ◽  
Author(s):  
Barbara Tappino ◽  
Roberta Biancheri ◽  
Matthew Mort ◽  
Stefano Regis ◽  
Fabio Corsolini ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Krabbe Disease ◽  
Galc Gene ◽  
Identification And Characterization
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