## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H
β¦ LIBER β¦
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency
β Scribed by Dr. Angelika F. Hahn; Bruce A. Gordon; Vera Feleki; George G. Hinton; Joseph J. Gilbert
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 447 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The R496H mutation of arylsulfatase A do
β
Michael H. Ricketts; Ronald D. Poretz; Paul Manowitz
π
Article
π
1998
π
John Wiley and Sons
π
English
β 106 KB
Metachromatic leukodystrophy: a 12-bp de
β
Jan A. F. M. Luyten; Paul W. Wenink; Gerry C. H. Steenbergen-Spanjers; Ron A. We
π
Article
π
1995
π
Springer
π
English
β 378 KB
A patient with an unusual form of metach
β
Sakkubai Naidu
π
Article
π
1996
π
Springer-Verlag
π
English
β 115 KB
A patient with an unusual form of metach
β
Volkmar Gieselmann
π
Article
π
1996
π
Springer-Verlag
π
English
β 110 KB
Occurrence, distribution, and phenotype
β
Berger, Johannes; LΓΆschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S
π
Article
π
1997
π
John Wiley and Sons
π
English
β 180 KB
π 2 views
Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra
S2.28 Mutations in the arylsulfatase a g
β
K. Honke; T. Kobayashi; R. Kondo; S. Tsuji; A. Makita
π
Article
π
1993
π
Springer US
π
English
β 126 KB