AB092. A novel variant c.1506G>C at exon 9 of iduronate 2-sulfatase gene in mucopolysaccharidosis type II Indonesian child

BACKGROUND: Mucopolysaccharidosis type II is one of the lysosomal storage diseases caused by the absence or malfunctioning of iduronate 2-sulfatase (IDS) enzyme in the lysosome due to alteration of IDS gene. This case report aimed to demonstrate our first MPS type II patient which tested for genetic...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Ariani, Yulia, Priambodo, Rizky, Hafifah, Cut Nurul, Sjarif, Damayanti Rusli
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
Assuntos:
Newborn Screening, Inborn Errors of Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641703/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s092
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