Literature DB >> 3533599

Biochemical diagnosis of genetic disease.

H Galjaard.   

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Year:  1986        PMID： 3533599     DOI： 10.1007/bf01941280

Source DB:  PubMed          Journal:  Experientia        ISSN： 0014-4754


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  36 in total

Review 1.  Prenatal diagnosis of the common haemoglobin disorders.

Authors:  D J Weatherall; J M Old; S L Thein; J S Wainscoat; J B Clegg
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

2.  The effects of genetic counselling in Duchenne muscular dystrophy.

Authors:  A E Emery; M S Watt; E R Clack
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

3.  First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.

Authors:  W J Kleijer; R Thoomes; H Galjaard; U Wendel; B Fowler
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

4.  Implications of diagnostic delay in Duchenne muscular dystrophy.

Authors:  T O'Brien; J R Sibert; P S Harper
Journal:  Br Med J (Clin Res Ed)       Date:  1983-10-15

5.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

6.  Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts.

Authors:  A Hasilik; A Waheed; K von Figura
Journal:  Biochem Biophys Res Commun       Date:  1981-02-12       Impact factor: 3.575

7.  Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.

Authors:  S H Orkin; A F Markham; H H Kazazian
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

8.  The relation between human lysosomal beta-galactosidase and its protective protein.

Authors:  A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  J Biol Chem       Date:  1983-10-25       Impact factor: 5.157

9.  Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.

Authors:  F W Verheijen; S Palmeri; A T Hoogeveen; H Galjaard
Journal:  Eur J Biochem       Date:  1985-06-03

10.  Use of colloidal gold particles in double-labeling immunoelectron microscopy of ultrathin frozen tissue sections.

Authors:  H J Geuze; J W Slot; P A van der Ley; R C Scheffer
Journal:  J Cell Biol       Date:  1981-06       Impact factor: 10.539
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  1 in total

1.  Bioassays. Patents and literature.

Authors:  R J Linhardt
Journal:  Appl Biochem Biotechnol       Date:  1987-10       Impact factor: 2.926
  1 in total

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