Literature DB >> 4211797

An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.

H Galjaard, M F Niermeijer, N Hahnemann, J Mohr, S A Sorensen.   

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Year:  1974        PMID： 4211797     DOI： 10.1111/j.1399-0004.1974.tb01708.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Mannosidosis: tissue culture studies in relation to prenatal diagnosis.

Authors:  I Maire; M T Zabot; M Mathieu; J Cotte; M Hermier
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.

Authors:  A Ejiofor; D Robinson; D Wise; M Hamers; J M Tager
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  Methodology of the quantitative cytochemical analysis of single or small numbers of cultured cells.

Authors:  H Galjaard; J J Van Hoogstraten; J E De Josselin de Jong; M P Mulder
Journal:  Histochem J       Date:  1974-07

4.  Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods.

Authors:  W J Kleijer; E Van der Veer; M F Niermeijer
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

5.  Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

Authors:  J A Lowden; N Rudd; E Cutz; T A Doran
Journal:  Can Med Assoc J       Date:  1975-09-20       Impact factor: 8.262

6.  Lysosomal enzyme activities in different types of amniotic fluid cells measured by microchemical methods, combined with interference microscopy.

Authors:  E Van der Veer; W J Kleijer; J E de Josselin de Jong; H Galjaard
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

7.  The use of quantiatative cytochemical analyses in rapid prenatal detection and somatic cell genetic studies of metabolic diseases.

Authors:  H Galjaard; A Hoogeveen; W Keijzer; E De Wit-Verbeek; C Vlek-Noot
Journal:  Histochem J       Date:  1974-09

8.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

9.  Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.

Authors:  I Maire; G Mandon; M T Zabot; M Mathieu; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982
  9 in total

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