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

Arylsulfatase A ◽

The Common ◽

In Cis ◽

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(03)00077-5 ◽

2003 ◽

Vol 79 (2) ◽

pp. 91-98 ◽

Cited By ~ 12

Author(s):

M Coulter-Mackie

Keyword(s):

Missense Mutation ◽

Arylsulfatase A ◽

Frameshift Mutations ◽

Dna Collection ◽

In Cis ◽

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

Human Genetics ◽

10.1007/bf00202403 ◽

1991 ◽

Vol 86 (3) ◽

Cited By ~ 43

Author(s):

Volkmar Gieselmann

Keyword(s):

Genetic Counseling ◽

Rapid Detection ◽

Arylsulfatase A ◽

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

European Neurology ◽

10.1159/000008205 ◽

2000 ◽

Vol 44 (2) ◽

pp. 104-107 ◽

Cited By ~ 5

Author(s):

Agnieszka Ługowska ◽

Barbara Czartoryska ◽

Anna Tylki-Szymańska ◽

Mariola Bisko ◽

Janusz G. Zimowski ◽

...

Keyword(s):

Arylsulfatase A ◽

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

Human Genetics ◽

10.1007/s004390050652 ◽

1998 ◽

Vol 102 (1) ◽

pp. 50-53 ◽

Cited By ~ 10

Author(s):

Stefano Regis ◽

Mirella Filocamo ◽

Marina Stroppiano ◽

Fabio Corsolini ◽

Francesco Caroli ◽

...

Keyword(s):

Neurological Symptoms ◽

Arylsulfatase A ◽

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

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5201100 ◽

2003 ◽

Vol 12 (2) ◽

pp. 150-154 ◽

Cited By ~ 9

Author(s):

Stefano Regis ◽

Fabio Corsolini ◽

Verena Ricci ◽

Marco Di Duca ◽

Mirella Filocamo

Keyword(s):

Splice Site ◽

Splice Site Mutation ◽

Arylsulfatase A ◽

Site Mutation ◽

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

Annals of Clinical and Translational Neurology ◽

10.1002/acn3.51254 ◽

2020 ◽

Author(s):

Christine í Dali ◽

Samuel Groeschel ◽

Mihai Moldovan ◽

Mohamed H. Farah ◽

Ingeborg Krägeloh‐Mann ◽

...

Keyword(s):

Phase 1 ◽

Three Novel Mutant Arylsulfatase A Alleles Causing Metachromatic Leukodystrophy

Neurochemical Research ◽

10.1023/b:nere.0000021237.55037.35 ◽

2004 ◽

Vol 29 (5) ◽

pp. 933-942 ◽

Cited By ~ 2

Author(s):

Afshin Yaghootfam ◽

Nicole Baumann ◽

Andreas Schwarz ◽

Volkmar Gieselmann

Keyword(s):

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

Human Mutation ◽

10.1002/humu.1380020405 ◽

1993 ◽

Vol 2 (4) ◽

pp. 261-267 ◽

Cited By ~ 18

Author(s):

John S. Harvey ◽

Paul V. Nelson ◽

William F. Carey ◽

Evelyn F. Robertson ◽

C. Phillip Morris

Keyword(s):

Missense Mutation ◽

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

Molecular Therapy ◽

10.1038/sj.mt.6300012 ◽

2007 ◽

Vol 15 (1) ◽

pp. 38-43 ◽

Cited By ~ 30

Author(s):

Toshiyuki Kurai ◽

Sanae Hisayasu ◽

Ryo Kitagawa ◽

Makoto Migita ◽

Hidenori Suzuki ◽

...

Keyword(s):

Mouse Model ◽

Discrimination Between Metachromatic Leukodystrophy and Pseudo-Deficiency of Arylsulfatase A by Restriction Digest of Amplified Gene Fragments

The American Journal of the Medical Sciences ◽

10.1097/00000441-199502000-00006 ◽

1995 ◽

Vol 309 (2) ◽

pp. 88-91 ◽

Cited By ~ 3

Author(s):

Yoav Ben-Yoseph ◽

Deborah A. Mitchell

Keyword(s):

Arylsulfatase A ◽

Restriction Digest