𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

✍ Scribed by Maria Luiza Barth; Anthony Fensom; Ann Harris


Publisher
Springer
Year
1993
Tongue
English
Weight
540 KB
Volume
91
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of nine novel arylsulfata
✍ Barry Eng; Lisa N. Nakamura; Natasha O'Reilly; Natasha Schokman; Magorzata M.J. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 27 KB πŸ‘ 1 views

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed

Occurrence, distribution, and phenotype
✍ Berger, Johannes; LΓΆschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 180 KB πŸ‘ 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

Characterization of new arylsulfatase A
✍ Martina Cesani; Alessia Capotondo; Tiziana Plati; Lucia Sergi Sergi; Francesca F πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 186 KB

Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous syst

Metachromatic leukodystrophy in the Nava
✍ N. M. Pastor-Soler; M. A. Rafi; J. D. Hoffman; D. Hu; D. A. Wenger πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 781 KB

Communicated by Robert I. Desnick Metachromatic leukodystmphy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme aryl

Metachromatic leukodystrophy: Identifica
✍ Ruxandra Draghia; Franck Letourneur; Cristina Drugan; Jeanne Manicom; Christophe πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 273 KB πŸ‘ 2 views

Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was

An 11-bp deletion in the arylsulfatase A
✍ Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 572 KB

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts