Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy

2003 ◽  
Vol 79 (2) ◽  
pp. 83-90 ◽  
Author(s):  
M Rafi
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A ◽  
The Common ◽  
In Cis ◽  
Pseudodeficiency Allele

Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland

2000 ◽  
Vol 44 (2) ◽  
pp. 104-107 ◽  
Author(s):  
Agnieszka Ługowska ◽  
Barbara Czartoryska ◽  
Anna Tylki-Szymańska ◽  
Mariola Bisko ◽  
Janusz G. Zimowski ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A ◽  
Pseudodeficiency Allele

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

1998 ◽  
Vol 102 (1) ◽  
pp. 50-53 ◽  
Author(s):  
Stefano Regis ◽  
Mirella Filocamo ◽  
Marina Stroppiano ◽  
Fabio Corsolini ◽  
Francesco Caroli ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Neurological Symptoms ◽  
Arylsulfatase A ◽  
Pseudodeficiency Allele

scholarly journals An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

2003 ◽  
Vol 12 (2) ◽  
pp. 150-154 ◽  
Author(s):  
Stefano Regis ◽  
Fabio Corsolini ◽  
Verena Ricci ◽  
Marco Di Duca ◽  
Mirella Filocamo
Keyword(s):  
Splice Site ◽  
Metachromatic Leukodystrophy ◽  
Splice Site Mutation ◽  
Arylsulfatase A ◽  
Site Mutation ◽  
Pseudodeficiency Allele

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

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

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
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