Literature DB >> 844865

Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.

K Harzer.   

Abstract

A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.

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Year:  1977        PMID： 844865     DOI： 10.1007/BF00393969

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination.

Authors:  W G Ellis; E L Schneider; J R McCulloch; K Suzuki; C J Epstein
Journal:  Arch Neurol       Date:  1973-10

2.  [Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].

Authors:  K Harzer; H U Benz; H Knörr-Gärtner; W D Jonatha; K Knörr
Journal:  Dtsch Med Wochenschr       Date:  1976-05-21       Impact factor: 0.628

3.  In utero diagnosis of globoid cell leukodystrophy (Krabb's disease).

Authors:  K Suzuki; E L Schneider; C J Epstein
Journal:  Biochem Biophys Res Commun       Date:  1971-12-03       Impact factor: 3.575

4.  Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Authors:  K Suzuki; Y Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1970-06       Impact factor: 11.205
  4 in total
  7 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 2.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

3.  [Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses].

Authors:  G Suchlandt; W Schlote; K Harzer
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1982

4.  The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.

Authors:  G T Besley
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

5.  Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Authors:  H Groebe; M Krins; H Schmidberger; K von Figura; K Harzer; H Kresse; E Paschke; A Sewell; K Ullrich
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

6.  Fetal Krabbe leukodystrophy. A morphologic study of two cases.

Authors:  J J Martin; J G Leroy; C Ceuterick; J Libert; P Dodinval; L Martin
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

7.  Fetal globoid cell leukodystrophy in one of twins.

Authors:  R Okeda; Y Suzuki; S Horiguchi; T Fujii
Journal:  Acta Neuropathol       Date:  1979-07-13       Impact factor: 17.088
  7 in total

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