Literature DB >> 4214804

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

H Galjaard, A Hoogeveen, W Keijzer, E De Wit-Verbeek, C Vlek-Noot.   

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Year:  1974        PMID： 4214804     DOI： 10.1007/bf01003266

Source DB:  PubMed          Journal:  Histochem J        ISSN： 0018-2214


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  35 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

Review 2.  Prenatal detection of genetic disorders.

Authors:  H L Nadler
Journal:  Adv Hum Genet       Date:  1972

3.  Glycogen storage diseases.

Authors:  F Van Hoof; L Hue; T De Barsy; P Jacquemin; P Devos; H G Hers
Journal:  Biochimie       Date:  1972       Impact factor: 4.079

Review 4.  Use of cell culture techniques in diagnosis and studies of inherited disease.

Authors:  H M Nitowsky
Journal:  Semin Hematol       Date:  1972-10       Impact factor: 3.851

5.  Lipidoses.

Authors:  R O Brady
Journal:  Biochimie       Date:  1972       Impact factor: 4.079

6.  Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases.

Authors:  M F Niermeijer; D Halley; E Sachs; C Tichelaar-Klepper; K L Garver
Journal:  Humangenetik       Date:  1973

7.  The quantitative histochemistry of hypothalamus. I. Pentose shunt enzymes in the activated supraoptic nucleus of the rat.

Authors:  J F Jongkind
Journal:  J Histochem Cytochem       Date:  1967-07       Impact factor: 2.479

8.  The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.

Authors:  G Bach; R Friedman; B Weissmann; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-08       Impact factor: 11.205

9.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205

10.  Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analyses.

Authors:  M F Niermeijer; J F Koster; M Jahodova; J Fernandes; M J Heukels-Dully; H Galjaard
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756
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  11 in total

Review 1.  Assessment of lysosomal function by quantitative histochemical and cytochemical methods.

Authors:  C J van Noorden
Journal:  Histochem J       Date:  1991-10

2.  The influence of freezing and freeze-drying of tissue specimens on enzyme activity.

Authors:  A E Meijer; D Benson; H R Scholte
Journal:  Histochemistry       Date:  1977-04-04

3.  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

4.  The genetic defect in the various types of human beta-galactosidase deficiency.

Authors:  H L Hoeksema; J De Wit; A Westerveld
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

5.  An automatic fluorescence micro-ELISA system for quantitative screening of hybridoma supernatants using a protein-A-beta-galactosidase conjugate.

Authors:  P L Van Soest; J de Josselin de Jong; P M Lansdorp; W Van Ewijk
Journal:  Histochem J       Date:  1984-01

6.  Enzyme assays at the single cell level using a new type of microfluorimeter.

Authors:  J F Jongkind; J S Ploem; A J Reuser; H Galjaard
Journal:  Histochemistry       Date:  1974

7.  The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components.

Authors:  M T Bladon
Journal:  Biochem Genet       Date:  1981-10       Impact factor: 1.890

8.  [Microchemical investigation of alpha D-glucosidases using 4-methylumnelliferyl- and 2-naphthyl-alpha-d-glucoside (author's transl)].

Authors:  R Gossrau
Journal:  Histochemistry       Date:  1977-05-20

9.  Prenatal diagnosis of genetic disorders.

Authors:  M F Niermeijer; E S Sachs; M Jahodova; C Tichelaar-Klepper; W J Kleijer; H Galjaard
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

10.  Alkaline phosphatase activity of normal and cystic fibrosis fibroblasts.

Authors:  D A Aitken; A Hoogeveen
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318
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