Literature DB >> 4706397

Metachromatic leukodystrophy: ambiguity of heterozygote identification.

H Kihara, M T Porter, A L Fluharty, M L Scott, S D De la Flor, J L Trammell, R N Nakamura.   

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Year:  1973        PMID： 4706397

Source DB:  PubMed          Journal:  Am J Ment Defic        ISSN： 0002-9351


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  6 in total

1.  Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.

Authors:  H Kohn; P Manowitz; M Miller; A Kling
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

2.  [Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].

Authors:  E Czmok; F Regli; A Bischoff; K Harzer; H U Benz
Journal:  J Neurol       Date:  1974       Impact factor: 4.849

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

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

4.  [Problems in the diagnosis of metachromatic leukodystrophy by arylsulfatase-A assay in white blood cells. Genetic study of normal enzyme values in 64 mother and child pairs (author's transl)].

Authors:  K Harzer; K I Gussmann
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1981

5.  [Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].

Authors:  E Czmok; F Regli; K Harzer; H U Benz
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1974

6.  Genetic variation of hexosaminidase A and arylsulfatase A activity. Correlation study in amnio-maternal pairs of cultured cells.

Authors:  K Harzer; K Hayashi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  6 in total

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