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Sanfilippo syndrome type C: assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals

✍ Scribed by Udo Klein; Jacques J. P. van de Kamp; Kurt von Figura; Regina Pohlmann


Book ID
119839218
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
265 KB
Volume
20
Category
Article
ISSN
0009-9163

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Sanfilippo syndrome type C: mutation spe
✍ Matthew Feldhammer; Stéphanie Durand; Lenka Mrázová; Renée-Myriam Boucher; Rache 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB

Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), which catalyzes transmembrane acety