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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… 
National Institutes of Health

Related topics

Related topics

18 relations
Asymmetric Septal HypertrophyAutosomal recessive inheritanceDeglutition DisordersDiarrhea

Broader (2)

MucopolysaccharidosesMucopolysaccharidosis III

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss
Aims/hypothesisNot all obese individuals develop type 2 diabetes. Why some obese individuals retain normal glucose tolerance (NGT… 
Highly Cited
1999
Highly Cited
1999
Synthesis and biological evaluation of a new class of vaccine adjuvants: aminoalkyl glucosaminide 4-phosphates (AGPs).
1997
1997
Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.
Mucopolysaccharidosis type IIID or Sanfilippo D syndrome is a lysosomal storage disorder caused by the deficiency of N… 
1991
1991
Protein kinase C and cyclic AMP modulate thrombin-induced platelet-activating factor synthesis in human endothelial cells.
Highly Cited
1989
Highly Cited
1989
Ovarian failure and autoimmunity. Detection of autoantibodies directed against both the unoccupied luteinizing hormone/human chorionic gonadotropin receptor and the hormone-receptor complex of bovine…
We developed an ELISA system for the detection of human anti-ovarian antibodies. Bovine corpora lutea were extracted in PBS (pH 7… 
Highly Cited
1988
Highly Cited
1988
Formation of 1-alkyl-2-acetyl-sn-glycerols via the de novo biosynthetic pathway for platelet-activating factor. Characterization of 1-alkyl-2-acetyl-sn-glycero-3-phosphate phosphohydrolase in rat…
1-Alkyl-2-acetyl-sn-glycerol (alkylacetyl-G) is an important intermediate in the biosynthesis of 1-alkyl-2-acetyl-sn-glycero-3… 
Highly Cited
1986
Highly Cited
1986
A new de novo pathway for the formation of 1-alkyl-2-acetyl-sn-glycerols, precursors of platelet activating factor. Biochemical characterization of 1-alkyl-2-lyso-sn-glycero-3-P:acetyl-CoA…
1978
1978
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
Two families with unusual hexosaminidase A (HEX A) mutations are described. In one, the proband had the Tay-Sachs disease… 
Highly Cited
1977
Highly Cited
1977
Regulation of cholesterol synthesis in rat adrenal gland through coordinate control of 3-hydroxy-3-methylglutaryl coenzyme A synthase and reductase activities.
The activities of cytosolic 3-hydroxy-3-methylglutaryl coenzyme A synthase [3-hydroxy-3-methylglutaryl-CoA acetoacetyl-CoA-lyase… 
Highly Cited
1965
Highly Cited
1965
LACTATE METABOLISM BY PEPTOSTREPTOCOCCUS ELSDENII: EVIDENCE FOR LACTYL COENZYME A DEHYDRASE.
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