An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy

1993 ◽  
Vol 2 (4) ◽  
pp. 261-267 ◽  
Author(s):  
John S. Harvey ◽  
Paul V. Nelson ◽  
William F. Carey ◽  
Evelyn F. Robertson ◽  
C. Phillip Morris
Keyword(s):  
Missense Mutation ◽  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene

2016 ◽  
Vol 51 (3) ◽  
pp. 683-687 ◽  
Author(s):  
Katharina Stoeck ◽  
Marios Nikos Psychogios ◽  
Andreas Ohlenbusch ◽  
Robert Steinfeld ◽  
Jens Schmidt
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Arylsulfatase A ◽  
Early Onset Dementia

scholarly journals Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

2020 ◽  
Author(s):  
Christine í Dali ◽  
Samuel Groeschel ◽  
Mihai Moldovan ◽  
Mohamed H. Farah ◽  
Ingeborg Krägeloh‐Mann ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Phase 1 ◽  
Arylsulfatase A

Three Novel Mutant Arylsulfatase A Alleles Causing Metachromatic Leukodystrophy

2004 ◽  
Vol 29 (5) ◽  
pp. 933-942 ◽  
Author(s):  
Afshin Yaghootfam ◽  
Nicole Baumann ◽  
Andreas Schwarz ◽  
Volkmar Gieselmann
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

scholarly journals AAV1 Mediated Co-expression of Formylglycine-Generating Enzyme and Arylsulfatase A Efficiently Corrects Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy

2007 ◽  
Vol 15 (1) ◽  
pp. 38-43 ◽  
Author(s):  
Toshiyuki Kurai ◽  
Sanae Hisayasu ◽  
Ryo Kitagawa ◽  
Makoto Migita ◽  
Hidenori Suzuki ◽  
...  
Keyword(s):  
Mouse Model ◽  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

scholarly journals Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial

2020 ◽  
Vol 131 (1-2) ◽  
pp. 235-244 ◽  
Author(s):  
Christine í Dali ◽  
Caroline Sevin ◽  
Ingeborg Krägeloh-Mann ◽  
Roberto Giugliani ◽  
Norio Sakai ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Metachromatic Leukodystrophy ◽  
Phase 1 ◽  
Arylsulfatase A ◽  
Human Arylsulfatase

Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene

1994 ◽  
Vol 4 (3) ◽  
pp. 199-207 ◽  
Author(s):  
N. M. Pastor-Soler ◽  
M. A. Rafi ◽  
J. D. Hoffman ◽  
D. Hu ◽  
D. A. Wenger
Keyword(s):  
Splice Site ◽  
Indian Population ◽  
Metachromatic Leukodystrophy ◽  
Splice Site Mutation ◽  
Arylsulfatase A ◽  
Site Mutation ◽  
Intron 4
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