Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy

Author:

Virgens M.Y.F.ORCID,Siebert M.,Bock H.,Burin M.,Giugliani R.,Saraiva-Pereira M.L.

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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