Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?

BACKGROUND: Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene. Based on epidemiological surveys the incidence of MLD per 100 000 live births varied from 0.6 to 2.5. Our purpose was to estimate the birth preva...

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Detalles Bibliográficos
Autores principales: Ługowska, Agnieszka, Ponińska, Joanna, Krajewski, Paweł, Broda, Grażyna, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112151/
https://www.ncbi.nlm.nih.gov/pubmed/21695197
http://dx.doi.org/10.1371/journal.pone.0020218

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