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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| Datum: | 2014 |
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| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
Інститут молекулярної біології і генетики НАН України
2014
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| Schriftenreihe: | Вiopolymers and Cell |
| Schlagworte: | |
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| 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. |