Literature DB >> 4192207

Infantile metachromatic leukodystrophy.

M M Kaback, R R Howell.   

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Year:  1970        PMID： 4192207     DOI： 10.1056/NEJM197006112822403

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


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  16 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.  Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy.

Authors:  P K Thomas; R H King; R S Kocen; E M Brett
Journal:  Acta Neuropathol       Date:  1977-08-31       Impact factor: 17.088

Review 3.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

4.  Developmental, tissue-specific, and sex differences in activity among three enzymes from human erythrocytes and cultured fibroblasts.

Authors:  M W Steele; K E Owens
Journal:  Biochem Genet       Date:  1973-06       Impact factor: 1.890

5.  Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.

Authors:  D F Farrell; A K Percy; M M Kaback; G M McKhann
Journal:  Am J Hum Genet       Date:  1973-11       Impact factor: 11.025

6.  Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria.

Authors:  G Romeo; M M Kaback; E Y Levin
Journal:  Biochem Genet       Date:  1970-12       Impact factor: 1.890

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

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

8.  The genetics of the aryl sulfatase A locus.

Authors:  T Schaap; J Zlotogora; E Elian; Y Barak; G Bach
Journal:  Am J Hum Genet       Date:  1981-07       Impact factor: 11.025

9.  Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

Authors:  L N Rossi; F Vassella; A Bischoff; U N Wiesmann; N Herschkowitz
Journal:  J Neurol       Date:  1975-10-24       Impact factor: 4.849

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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