Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

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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Podrobná bibliografie
Hlavní autoři: Agnieszka Ługowska, Joanna Ponińska, Paweł Krajewski, Grażyna Broda, Rafał Płoski
Médium: Článek
Jazyk:English
Vydáno: Public Library of Science (PLoS) 2011-01-01
Edice:PLoS ONE
On-line přístup:http://europepmc.org/articles/PMC3112151?pdf=render

Internet

http://europepmc.org/articles/PMC3112151?pdf=render

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