Literature DB >> 204324

Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection.

A J Vermorken, P J Weterings, G T Spierenburg, C A vanBennekom, P Wirtz, C H deBruyn, T L Oei.   

Abstract

A method of assay alpha-galactosidase and acid phosphatase activities in single hair roots is described. Enzyme histochemical studies show that the distribution of acid phosphatase in the human hair root matches that of alpha-galactosidase. Histochemically, the main activity is located in the upper part of the sheath near the orifice of the duct of the sebaceous gland. This is confirmed by enzyme assays on different parts of the hair root after dissection. The variation in the values found in individual hair roots is improved by relating alpha-galactosidase to acid phosphatase activities. Storage experiments indicate a remarkable stability of both alpha-galactosidase and acid phosphatase in human hair roots.

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Year:  1978        PMID： 204324     DOI： 10.1111/j.1365-2133.1978.tb01621.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  7 in total

1.  Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Authors:  A J Kirkilionis; D C Riddell; M W Spence; R G Fenwick
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

2.  Hair root diagnosis of Fabry's disease.

Authors:  D Robinson; J M Tager
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  Human hair follicle cells in culture: the development of a new culture system and its potential applications.

Authors:  A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1986       Impact factor: 2.316

4.  Phenotypic expression in mucopolysaccharidosis VII.

Authors:  P L Bernsen; R A Wevers; F J Gabreëls; K J Lamers; A E Sonnen; J H Stekhoven
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-06       Impact factor: 10.154

5.  Noninvasive test for fragile X syndrome, using hair root analysis.

Authors:  R Willemsen; B Anar; Y De Diego Otero; B B de Vries; Y Hilhorst-Hofstee; A Smits; E van Looveren; P J Willems; H Galjaard; B A Oostra
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

6.  Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates.

Authors:  S Y Lin; D M Niu; M J Li; C P Tu; H L Lin
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

7.  Protein biosynthesis in cultured human hair follicle cells.

Authors:  P J Weterings; A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1980-10-31       Impact factor: 2.316
  7 in total

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