MPS III C

Known as: MPS3C, Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase, Sanfilippo Syndrome C 
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1978-2017
024619782017

Papers overview

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2015
2015
Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous… (More)
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2010
2010
Heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT) catalyzes the transmembrane acetylation of heparan… (More)
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2010
2010
AIM The aim of this study was to present the natural clinical course in children and adolescents with MPS III diagnosed during a… (More)
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2009
2009
Mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C (MPS IIIC, MIM #252930) is an autosomal recessive disorder caused… (More)
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2008
2008
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the… (More)
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2006
2006
Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited… (More)
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2006
2006
Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not… (More)
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2004
2004
Mucopolysaccharidosis type IIIC (MPS IIIC, or Sanfilippo syndrome C) is a rare lysosomal storage disorder caused by a deficiency… (More)
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1993
1993
Both the α- and β-anomers of 4-methylumbelliferyl-D-glucosaminide were synthesized and shown to be substrates for the lysosomal… (More)
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Highly Cited
1981
Highly Cited
1981
A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14… (More)
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