Literature DB >> 6493280

First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi.

W J Kleijer, G M Mancini, M G Jahoda, R P Vosters, E S Sachs, M F Niermeijer, H Galjaard.   

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Year:  1984        PMID： 6493280

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Prenatal diagnosis of genetic disease by chorionic villi sampling.

Authors:  I Bartels; I Hansmann
Journal:  Indian J Pediatr       Date:  1986 Jul-Aug       Impact factor: 1.967

Review 2.  Biochemical diagnosis of genetic disease.

Authors:  H Galjaard
Journal:  Experientia       Date:  1986-10-15

3.  Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Authors:  W J Kleijer; J L Keulemans; M van der Kraan; G G Geilen; R M van der Helm; M A Rafi; P Luzi; D A Wenger; D J Halley; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

4.  Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi.

Authors:  K Harzer; I Schuster
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

5.  Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.

Authors:  K Harzer; H D Hager; G Tariverdian
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132
  5 in total

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