Literature DB >> 4707419

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.

J G Leroy, A F Van Elsen, J J Martin, J E Dumon, A E Hulet, S Okada, C Navarro.   

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Year:  1973        PMID： 4707419     DOI： 10.1056/NEJM197306282882602

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


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  12 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

2.  First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'.

Authors:  L Poenaru; L Castelnau; A M Besançon; H Nicolesco; S Akli; D Theophil
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 3.  Progress in investigations of sphingolipidoses.

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

4.  I-cell disease (mucolipidosis II):a report on its pathology.

Authors:  J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

5.  Early motor development in metachromatic leucodystrophy.

Authors:  J Zlotogora; H Costeff; E Elian
Journal:  Arch Dis Child       Date:  1981-04       Impact factor: 3.791

6.  Heterozygote detection in MLD. allelic mutations at the ARA locus.

Authors:  D F Farrell
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 7.  Genetic heterogeneity in metachromatic leukodystrophy.

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

8.  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

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.  Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.

Authors:  D F Farrell; S M Sumi; C R Scott; G Rice
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-01       Impact factor: 10.154
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