Literature DB >> 6429622

Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.

R Pallini, I G Leder, P di Natale.   

Abstract

We describe an assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase using purified [14C]glucosamine as substrate, and leukocytes as enzyme source. The assay is suitable for the diagnosis of homozygous and heterozygous carriers of Sanfilippo syndrome type C.

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Year:  1984        PMID： 6429622     DOI： 10.1203/00006450-198406000-00013

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  5 in total

1.  Second trimester prenatal diagnosis of Sanfilippo syndrome type C.

Authors:  I Maire; S Epelbaum; M Piraud; G Mandon; R Dumoulin; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).

Authors:  P Di Natale; T Annella; A Daniele; T De Luca; E Morabito; R Pallini; P Rosario; G Spagnuolo
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

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

Authors:  Yoo Choi; Alexander B Tuzikov; Tatyana V Ovchinnikova; Nicolai V Bovin; Alexey V Pshezhetsky
Journal:  JIMD Rep       Date:  2015-10-23

4.  A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).

Authors:  E A Karpova; T V Dudukina; I V Tsvetkova; A M Boer; H C Janse; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  The lysosomal disease caused by mutant VPS33A.

Authors:  Elena V Pavlova; Aleksey Shatunov; Lena Wartosch; Alena I Moskvina; Lena E Nikolaeva; Nicholas A Bright; Karen L Tylee; Heather J Church; Andrea Ballabio; J Paul Luzio; Timothy M Cox
Journal:  Hum Mol Genet       Date:  2019-08-01       Impact factor: 6.150
  5 in total

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