Literature DB >> 930929

Inheritance of metachromatic leukodystrophy.

U Langenbeck, P Dunker, R Heipertz, H Pilz.   

Abstract

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Year:  1977        PMID： 930929      PMCID： PMC1685503     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  The activator of cerebroside sulphatase. Purification from human liver and identification as a protein.

Authors:  G Fischer; H Jatzkewitz
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1975-05

2.  Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.

Authors:  H Pilz
Journal:  Arch Neurol       Date:  1972-07

3.  [Clinical and genealogical report on a new family with three cases of adult metachromatic leukodystrophy].

Authors:  A Wildbolz
Journal:  Schweiz Arch Neurol Neurochir Psychiatr       Date:  1971

Review 4.  The application of bacterial genetics to the study of human genetic abnormalities.

Authors:  J C Dreyfus
Journal:  Prog Med Genet       Date:  1969

5.  The genetics of hereditary angioedema: a hypothesis.

Authors:  M H Shokeir
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

6.  A family study of the late infantile and juvenile forms of metachromatic leucodystrophy.

Authors:  H S Schutta; R T Pratt; H Metz; K A Evans; C O Carter
Journal:  J Med Genet       Date:  1966-06       Impact factor: 6.318

7.  Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

Authors:  G Dubois; K Harzer; N Baumann
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

8.  Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.

Authors:  J Austin; D Armstrong; S Fouch; C Mitchell; D Stumpf; L Shearer; O Briner
Journal:  Arch Neurol       Date:  1968-03

9.  Dominant inheritance of McArdle syndrome.

Authors:  L A Chui; T L Munsat
Journal:  Arch Neurol       Date:  1976-09
  9 in total
  9 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.  Heterozygote detection in MLD. allelic mutations at the ARA locus.

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

Review 3.  Genetic heterogeneity in metachromatic leukodystrophy.

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

4.  Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.

Authors:  H Kihara; W E Meek; A L Fluharty
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

5.  Two different forms of maple syrup urine disease in a single family.

Authors:  U Langenbeck
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

6.  An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.

Authors:  V Gieselmann
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

7.  Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications.

Authors:  C Hohenschutz; P Eich; W Friedl; A Waheed; E Conzelmann; P Propping
Journal:  Hum Genet       Date:  1989-04       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.  Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.

Authors:  P L Chang; R G Davidson
Journal:  Proc Natl Acad Sci U S A       Date:  1983-12       Impact factor: 11.205
  9 in total

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