Literature DB >> 117232

Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells.

J Butterworth.   

Abstract

Assay of alpha-L-iduronidase, heparin sulphamidase, N-acetyl-alpha-D-glucosaminidase, arylsulphatase B, alpha-L-fucosidase, beta-glucuronidase, beta-galactosidase and alpha-D-mannosidase in cultured cells is described. Activities in deficient fibroblast strains are compared to control fibroblast strains. The first case of Sanfilippo B in the United Kingdom is reported. A comparison of enzyme activities in cultured fibroblasts and amniotic fluid cells is made.

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Year:  1978        PMID： 117232     DOI： 10.1007/bf01805711

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


  9 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.  Residual altered alpha-mannosidase in human mannosidosis.

Authors:  A L Beaudet; B L Nichols
Journal:  Biochem Biophys Res Commun       Date:  1976-01-12       Impact factor: 3.575

3.  Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.

Authors:  E Shapira; R R DeGregorio; R Matalon; H L Nadler
Journal:  Biochem Biophys Res Commun       Date:  1975-01-20       Impact factor: 3.575

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.  Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.

Authors:  C W Hall; E F Neufeld
Journal:  Arch Biochem Biophys       Date:  1973-10       Impact factor: 4.013

6.  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

7.  Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts.

Authors:  H A Taylor; G H Thomas; A Aylsworth; R E Stevenson; L W Reynolds
Journal:  Clin Chim Acta       Date:  1975-02-22       Impact factor: 3.786

8.  Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Authors:  J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1972-07       Impact factor: 11.205

9.  Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

Authors:  D A Stumpf; J H Austin; A C Crocker; M LaFrance
Journal:  Am J Dis Child       Date:  1973-12
  9 in total
  2 in total

1.  Comparison of the substrate 4-methylumbelliferyl-alpha-l-iduronide with phenyl-alpha-L-iduronide for the diagnosis of Hurler's disease in cultured cells.

Authors:  J Butterworth; D M Broadhead
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

2.  A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.

Authors:  Victor Mauri; Parisa Lotfi; Laura Segatori; Marco Sardiello
Journal:  PLoS One       Date:  2013-06-28       Impact factor: 3.240
  2 in total

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