Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy
Author:
Funder
CNPq
FIPE-HCPA
ONG Pela Vida
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference54 articles.
1. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy;Artigalas;J. Inherit. Metab. Dis.,2010
2. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients;Barth;Hum. Mol. Genet.,1993
3. Identification of seven novelmutations associated with metachromatic leukodystrophy;Barth;Hum. Mutat.,1995
4. A new polymorphism of arylsulfatase A within the coding region;Berger;Hum. Genet.,1996
5. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy;Berger;Am. J. Med. Genet.,1997
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4. Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome;Arquivos de Neuro-Psiquiatria;2016-12
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