Literature DB >> 3366464

Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.

H Kohn1, P Manowitz, M Miller, A Kling.   

Abstract

Two groups of heterozygotes, one for metachromatic leukodystrophy (MLD) and the other for Tay-Sachs disease, were given a battery of neuropsychological tests, a standard neurological examination, and an EEG. Neurological and EEG findings were unremarkable for both groups. The MLD heterozygotes showed deficits in the neuropsychological tests involving spatial or constructional components, but not in tests involving language skills. The Tay-Sachs heterozygotes showed no consistent deficit on any component of the neuropsychological tests.

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Year:  1988        PMID： 3366464     DOI： 10.1007/bf00291701

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  23 in total

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Journal:  Lancet       Date:  1969-10-18       Impact factor: 79.321

2.  [An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies].

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Review 3.  Implications of cognitive impairment for the treatment of alcoholism.

Authors:  B S McCrady; D E Smith
Journal:  Alcohol Clin Exp Res       Date:  1986 Mar-Apr       Impact factor: 3.455

Review 4.  Clinical consequences of heterozygosity for autosomal-recessive diseases.

Authors:  F Vogel
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

5.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

6.  Arylsulfatase A variants in patients with alcoholism.

Authors:  A R Hulyalkar; R Nora; P Manowitz
Journal:  Alcohol Clin Exp Res       Date:  1984 May-Jun       Impact factor: 3.455

7.  Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Authors:  M L Batshaw; Y Roan; A L Jung; L A Rosenberg; S W Brusilow
Journal:  N Engl J Med       Date:  1980-02-28       Impact factor: 91.245

8.  Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Authors:  G Turner; R Brookwell; A Daniel; M Selikowitz; M Zilibowitz
Journal:  N Engl J Med       Date:  1980-09-18       Impact factor: 91.245

9.  Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.

Authors:  G Dubois; J C Turpin; M C Georges; N Baumann
Journal:  Biomedicine       Date:  1980-02

10.  Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Preliminary results.

Authors:  H Christomanou; J Martinius; S Jaffé; K Betke; C Förster
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
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  2 in total

Review 1.  Inherited metabolic diseases affecting the carrier.

Authors:  W Endres
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

Review 2.  Recent developments in the application of the nonverbal learning disabilities model.

Authors:  Brenna C McDonald
Journal:  Curr Psychiatry Rep       Date:  2002-10       Impact factor: 5.285
  2 in total

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