Sanfilippo Disease
Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members. DOI: http://dx.doi.org/1...
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| Veröffentlicht in: | Journal of Nepal Paediatric Society 2013-02, Vol.32 (3), p.263-265 |
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| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Online-Zugang: | Volltext |
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| Zusammenfassung: | Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members. DOI: http://dx.doi.org/10.3126/jnps.v32i3.6117 J. Nepal Paediatr. SocVol.32(3) 2012 263-265 |
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| ISSN: | 1990-7974 1990-7982 |
| DOI: | 10.3126/jnps.v32i3.6117 |