Literature DB >> 2116549

Carrier detection for Sanfilippo A syndrome.

J Stone1, A Brimble, C A Pennock.   

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.

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Year:  1990        PMID： 2116549     DOI： 10.1007/bf01799684

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

Review 1.  Inborn errors of lysosomal catabolism--principles of heterozygote detection.

Authors:  R D Jolly; R J Desnick
Journal:  Am J Med Genet       Date:  1979

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

4.  Carrier detection for Sanfilippo A syndrome.

Authors:  R Matalon; M Deanching; R Marback; K Michals
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

5.  The laboratory diagnosis of Sanfilippo disease.

Authors:  P Whiteman; E Young
Journal:  Clin Chim Acta       Date:  1977-04-01       Impact factor: 3.786

6.  Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

Authors:  H Kresse
Journal:  Biochem Biophys Res Commun       Date:  1973-10-01       Impact factor: 3.575
  6 in total

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