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Sanfilippo Syndrome Type C: Deficiency of acetyl-CoA:α -glucosaminide N-Acetyltransferase in Skin Fibroblasts

✍ Scribed by Udo Klein, Hans Kresse and Kurt Von Figura


Book ID
123655577
Publisher
National Academy of Sciences
Year
1978
Tongue
English
Weight
761 KB
Volume
75
Category
Article
ISSN
0027-8424

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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