Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands-Reference-Cited by-同舟云学术

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Published:2008-02 Issue:2 Volume:93 Page:104-111
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ruijter G.J.G.,Valstar M.J.,van de Kamp J.M.,van der Helm R.M.,Durand S.,van Diggelen O.P.,Wevers R.A.,Poorthuis B.J.,Pshezhetsky A.V.,Wijburg F.A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. The mucopolysaccharidoses;Neufeld,2001

2. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts;Klein;Proc. Natl. Acad. Sci. USA,1978

3. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C);van de Kamp;Clin. Genet.,1981

4. Early presentation in the mucopolysaccharide disorders;Colville;Child Care Health Dev.,1996

5. Sanfilippo syndrome type A in two adult sibs;Lindor;Am. J. Med. Genet.,1994

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