Literature DB >> 3139927

Carrier detection for Sanfilippo A syndrome.

R Matalon1, M Deanching, R Marback, K Michals.   

Abstract

In Sanfillipo A families, sulphamidase activities in leukocytes and cultured fibroblasts determined at 55 degrees C distinguish between heterozygote-carriers, normal individuals and the homozygotes.

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Year:  1988        PMID： 3139927     DOI： 10.1007/bf01799865

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


  6 in total

1.  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

2.  Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

Authors:  R Matalon; A Dorfman
Journal:  Proc Natl Acad Sci U S A       Date:  1966-10       Impact factor: 11.205

3.  The laboratory diagnosis of Sanfilippo disease.

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

4.  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

5.  Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.

Authors:  R Matalon; A Dorfman
Journal:  J Clin Invest       Date:  1974-10       Impact factor: 14.808

6.  Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).

Authors:  J J van de Kamp; M F Niermeijer; K von Figura; M A Giesberts
Journal:  Clin Genet       Date:  1981-08       Impact factor: 4.438
  6 in total
  2 in total

1.  Carrier detection for Sanfilippo A syndrome.

Authors:  J Stone; A Brimble; C A Pennock
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Complementation studies in human and caprine beta-mannosidosis.

Authors:  P Hu; D A Wenger; O P van Diggelen; W J Kleijer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  2 in total

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