Literature DB >> 3095499

Adrenoleukodystrophy and beta-galactosidase deficiency: patient and carrier.

I Goto, T Yoshimura, T Kobayashi, Y Kuroiwa.   

Abstract

A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities.

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3095499     DOI： 10.1007/bf00314164

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  10 in total

1.  Fatty acid abnormality in adrenoleukodystrophy.

Authors:  M Igarashi; H H Schaumburg; J Powers; Y Kishmoto; E Kolodny; K Suzuki
Journal:  J Neurochem       Date:  1976-04       Impact factor: 5.372

2.  Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members.

Authors:  I Goto; T Kobayashi; Y Antoku; S Tobimatsu; Y Kuroiwa
Journal:  J Neurol Sci       Date:  1986-01       Impact factor: 3.181

3.  [A case of adrenoleukodystrophy and a carrier with decreased activity of beta-galactosidase].

Authors:  T Yoshimura; T Kobayashi; M Kato; I Goto; Y Kuroiwa
Journal:  Rinsho Shinkeigaku       Date:  1985-05

4.  [Case of adrenoleukodystrophy presenting as spinocerebellar degeneration].

Authors:  S Suzuki; T Kitaguchi; T Tabira; I Goto; Y Kuroiwa
Journal:  Rinsho Shinkeigaku       Date:  1983-08

5.  Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Authors:  B R Migeon; H W Moser; A B Moser; J Axelman; D Sillence; R A Norum
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

6.  Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Authors:  A D'Azzo; A Hoogeveen; A J Reuser; D Robinson; H Galjaard
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

7.  Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules.

Authors:  H Sakuraba; T Aoyagi; Y Suzuki
Journal:  Clin Chim Acta       Date:  1982-11-10       Impact factor: 3.786

8.  Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.

Authors:  H W Moser; A E Moser; I Singh; B P O'Neill
Journal:  Ann Neurol       Date:  1984-12       Impact factor: 10.422

9.  Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

Authors:  I Goto; H Nakai; T Tabira; N Shinno; Y Tanaka; H Shibasaki; Y Kuroiwa
Journal:  J Neurol       Date:  1983       Impact factor: 4.849

10.  Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes.

Authors:  S L Naylor; R W Elliott; J A Brown; T B Shows
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.