Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries-Reference-Cited by-同舟云学术

Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Published:2005-11 Issue:3 Volume:86 Page:353-359
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lugowska Agnieszka,Amaral Olga,Berger Johannes,Berna Linda,Bosshard Nils U.,Chabas Amparo,Fensom Anthony,Gieselmann Volkmar,Gorovenko Natalia G.,Lissens Willy,Mansson Jan-Eric,Marcao Ana,Michelakakis Helen,Bernheimer Hanno,Ol’khovych Natalia V.,Regis Stefano,Sinke Richard,Tylki-Szymanska Anna,Czartoryska Barbara

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Metachromatic leukodystrophy;von Figura,2001

2. Structure of the arylsulfatase A gene;Kreysing;Eur. J. Biochem.,1990

3. Molecular basis of different forms of metachromatic leukodystrophy;Polten;N. Engl. J. Med.,1991

4. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy;Berger;Am. J. Med. Genet.,1997

5. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain;Barth;Hum. Genet.,1993

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Terra incognita of glial cell dynamics in the etiology of leukodystrophies: Broadening disease and therapeutic perspectives;Life Sciences;2024-10

2. The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review;European Journal of Medical Research;2024-03-18

3. A systematic review on the birth prevalence of metachromatic leukodystrophy;Orphanet Journal of Rare Diseases;2024-02-21

4. Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy;Frontiers in Neurology;2022-10-17

5. Clinical Reasoning: A 23-Year-Old Woman Presenting With Cognitive Impairment and Gait Disturbance;Neurology;2022-09-13