J Inherit Metab Dis. 1990;13(2):184-6.

Carrier detection for Sanfilippo A syndrome.

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Department of Paediatric Chemical Pathology, Bristol Maternity Hospital, UK.

Abstract

Leukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1) at 55 degrees C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.

PMID:: 2116549; [PubMed - indexed for MEDLINE]

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Carrier detection for Sanfilippo A syndrome. [J Inherit Metab Dis. 1988]
Carrier detection for Sanfilippo A syndrome.
Matalon R, Deanching M, Marback R, Michals K. J Inherit Metab Dis. 1988; 11(2):158-60.
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate. [Clin Sci (Lond). 1981]
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate.
Hopwood JJ, Elliott H. Clin Sci (Lond). 1981 Dec; 61(6):729-35.
Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source. [Pediatr Res. 1984]
Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.
Pallini R, Leder IG, di Natale P. Pediatr Res. 1984 Jun; 18(6):543-5.
Review [Mucopolysaccharidoses]. [Pediatr Pol. 1976]
Review [Mucopolysaccharidoses].
Kopyść Z, Gura C, Ryzko J. Pediatr Pol. 1976 Jun; 51(6):735-47.
Review [Sanfilippo's disease--accompanying findings in maxillofacial surgery as an aid to differential diagnosis of type III mucopolysaccharidosis]. [Dtsch Z Mund Kiefer Gesichtsch...]
Review [Sanfilippo's disease--accompanying findings in maxillofacial surgery as an aid to differential diagnosis of type III mucopolysaccharidosis].
Radtke J. Dtsch Z Mund Kiefer Gesichtschir. 1988 Jul-Aug; 12(4):289-92.

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Carrier detection for Sanfilippo A syndrome.

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