Literature DB >> 5123204

A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy.

M T Porter, A L Fluharty, J Trammell, H Kihara.   

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Year:  1971        PMID： 5123204     DOI： 10.1016/s0006-291x(71)80134-1

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  29 in total

1.  Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.

Authors:  P Leinekugel; S Michel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  An adult case of metachromatic leukodystrophy. Light, polarization and electron microscopic study.

Authors:  A Guseo; G Deák; I Szirmai
Journal:  Acta Neuropathol       Date:  1975-10-01       Impact factor: 17.088

3.  Colorimetric determination of sulphatide in cultured fibroblasts from patients with various types of metachromatic leukodystrophy after sulphatide loading test.

Authors:  U N Wiesmann; T Burkhart; J von Känel; T Toennesen; R Ghidoni
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  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

5.  Adult metachromatic leucodystrophy: an underdiagnosed disease?

Authors:  M Cerizza; R Nemni; F Tamma
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-12       Impact factor: 10.154

6.  Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.

Authors:  K Harzer; A S Recke
Journal:  Humangenetik       Date:  1975-10-07

7.  The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy.

Authors:  A F Hahn; B A Gordon; J J Gilbert; G G Hinton
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

8.  Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.

Authors:  R L Stevens; A L Fluharty; H Kihara; M M Kaback; L J Shapiro; B Marsh; K Sandhoff; G Fischer
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025

9.  Arylsulfatase A in pseudodeficiency.

Authors:  B Herz; G Bach
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis.

Authors:  T Tønnesen; C Vrang; U N Wiesmann; H Christomanou; H O Lou
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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