The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-α-glucoside N-acetyltransferase activity-Reference-Cited by-同舟云学术

The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-α-glucoside N-acetyltransferase activity

Published:1981-04 Issue:1 Volume:112 Page:67-75
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hopwood John J.,Elliott Helen

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference18 articles.

1. The mucopolysaccharide storage diseases;McKusick,1978

2. Sanfilippo syndrome type C: Deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase in skin fibroblasts;Klein,1978

3. Sanfilippo Type C Disease: clinical finding in four patients with a new variant of mucopolysaccharidosis III;Bartsocas;Eur. J. Pediatr.,1979

4. A new biochemical sub type of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients;Kresse;Eur. J. Biochem.,1978

5. A 3H-labelled trisaccharide from heparin as substrate for acetyl CoA: 2-amino-2-deoxy-α-d-glucoside N-acetyltransferase;Klein;Carbohydr. Res.,1980

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy;Genetic Disorders and the Fetus;2015-11-23

2. Sanfilippo syndrome: causes, consequences, and treatments;The Application of Clinical Genetics;2015-11

3. Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate;JIMD Reports;2015

4. New Substrates and Enzyme Assays for the Detection of Mucopolysaccharidosis III (Sanfilippo Syndrome) Types A, B, C, and D by Tandem Mass Spectrometry;Bioconjugate Chemistry;2012-03-09

5. Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy;Genetic Disorders and the Fetus;2010-09-24