Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature

2020 ◽  
Author(s):  
Chengyi Zhang ◽  
Zheng Liu ◽  
Huiqing Dong
Keyword(s):  
Novel Mutation ◽  
Krabbe Disease ◽  
Adult Onset ◽  
Review Of Literature ◽  
Chinese Adult

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

2018 ◽  
Vol 36 (1) ◽  
pp. 31-34
Author(s):  
Byeol A Yoon ◽  
Jisun Kim ◽  
Geum Bong Lee ◽  
Jae Woo Kim ◽  
Sang-Myung Cheon
Keyword(s):  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Adult Onset ◽  
Abcd1 Gene

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

2020 ◽  
Vol 41 (10) ◽  
pp. 2989-2991
Author(s):  
Vittorio Riso ◽  
S. Rossi ◽  
A. Perna ◽  
T. Nicoletti ◽  
L. Bosco ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Dystonic Tremor

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

scholarly journals Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare

2015 ◽  
Vol 3 (6) ◽  
pp. 392-395 ◽  
Author(s):  
Elena Flores Ballester ◽  
Juan José Gil‐Fernández ◽  
Miguel Vázquez Blanco ◽  
José M. Mesa ◽  
Juan Dios García ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Diamond Blackfan Anemia

A novel mutation in the GFAP gene in a familial adult onset Alexander disease

2007 ◽  
Vol 254 (9) ◽  
pp. 1278-1280 ◽  
Author(s):  
Andrea Salmaggi ◽  
Andrea Botturi ◽  
Elena Lamperti ◽  
Marina Grisoli ◽  
Rita Fischetto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Alexander Disease ◽  
Adult Onset
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