Eur J Pediatr. 1979 Apr 3;130(4):251-8.

Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.

Bartsocas C, Gröbe H, van de Kamp JJ, von Figura K, Kresse H, Klein U, Giesberts MA.

Abstract

A new genetic variant of the Sanfilippo syndrome due to deficiency of acetyl CoA: alpha-glucosaminide N-acetyltransferase, was recently demonstrated in four patients. The clinical findings of these patients are reported here. Differential diagnosis from other types of the Sanfilippo syndrome on clinical and routine laboratory criteria is difficult and enzyme assay is necessary to reach the diagnosis. Since two of the patients reported are females and consanguinity was present in one case, autosomal recessive inheritance is most probable.

PMID:: 108106; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. [J Biol Chem. 2010]
Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.
Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV. J Biol Chem. 2010 Oct 8; 285(41):31233-42. Epub 2010 Jul 22.
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. [PLoS One. 2009]
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
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Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). [Am J Hum Genet. 2006]
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