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Specificities of Sanfilippo A syndrome laboratory diagnostics

Mucopolysaccharidosis type IIIA (MPS IIIA) occurs due to the deficiency of lysosomal enzyme heparan-N-sulfatase (sulfamidase), which is caused by mutations in the SGSH gene. Aim. To identify the characteristics of biochemical diagnosis of MPS IIIA and determine the prevalence of major mutations R74C...

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Veröffentlicht in:	Вiopolymers and Cell
Datum:	2014
Hauptverfasser:	Trofimova, N.S., Olkhovich, N.V., Gorovenko, N.G.
Format:	Artikel
Sprache:	Englisch
Veröffentlicht:	Інститут молекулярної біології і генетики НАН України 2014
Schlagworte:	Biomedicine
Online Zugang:	https://nasplib.isofts.kiev.ua/handle/123456789/154555
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!
Назва журналу:	Digital Library of Periodicals of National Academy of Sciences of Ukraine
Zitieren:	Specificities of Sanfilippo A syndrome laboratory diagnostics / N.S. Trofimova, N.V. Olkhovich, N.G. Gorovenko // Вiopolymers and Cell. — 2014. — Т. 30, № 5. — С. 388-393. — Бібліогр.: 17 назв. — англ.

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