Literature DB >> 808791

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes.

P V Donnelly, N Di Ferrante.   

Abstract

Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.

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Year:  1975        PMID： 808791

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  9 in total

1.  Reliability of the Tønnesen technique for the identification of Hunter carriers.

Authors:  L Petruschka; G Machill; M Wehnert; G Seidlitz; A Knapp
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  X-linked Hunter syndrome: the heterozygous phenotype in cell culture.

Authors:  B R Migeon; J A Sprenkle; I Liebaers; J F Scott; E F Neufeld
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

3.  Detection of hunter heterozygotes by enzymatic analysis of hair roots.

Authors:  N Nwokoro; E F Neufeld
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

4.  Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Authors:  J T Clarke; W L Greer; P M Strasberg; R D Pearce; M A Skomorowski; P N Ray
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

5.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

6.  The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Authors:  E F Neufeld; I Liebaers; C J Epstein; S Yatziv; A Milunsky; B R Migeon
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

7.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

8.  Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome.

Authors:  T Tønnesen; F Güttler; C Lykkelund
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.

Authors:  T Tønnesen; C Lykkelund; F Güttler
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
  9 in total

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