Literature DB >> 1122864

[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].

K Harzer, V Zahn, S Stengel-Rutkowski, E O Gley.   

Abstract

Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.

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Year:  1975        PMID: 1122864

Source DB:  PubMed          Journal:  Dtsch Med Wochenschr        ISSN: 0012-0472            Impact factor:   0.628


  5 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.  Genetic heterogeneity in metachromatic leukodystrophy.

Authors:  H Kihara
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

3.  Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis with amniotic fluid by DEAE-Sepharose column chromatography and its confirmation by kidney lipid analysis.

Authors:  Y Eto; T Tahara; N Koda; S Yamaguchi
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

4.  Sequence of morphological alterations in the nervous system of metachromatic leucodystrophy. Light- and electronmicroscopic observations in the central and peripheral nervous system in a prenatally diagnosed foetus of 22 weeks.

Authors:  C Meier; A Bischoff
Journal:  Acta Neuropathol       Date:  1976-12-21       Impact factor: 17.088

5.  Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study.

Authors:  A Schmitt-Gräff
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

  5 in total

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