Literature DB >> 5110535

The incidence and genetics of metachromatic leucodystrophy in northern Sweden.

K H Gustavson, B Hagberg.   

Abstract

Entities:  

Mesh：

Year:  1971        PMID： 5110535     DOI： 10.1111/j.1651-2227.1971.tb06994.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


× No keyword cloud information.
  19 in total

1.  Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

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

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

3.  Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.

Authors:  A C Martinez; M T Ferrer; E Fueyo; L Galdos
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-02       Impact factor: 10.154

4.  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

5.  Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations.

Authors:  Adem Özkan; Hatice Asuman Özkara
Journal:  Intractable Rare Dis Res       Date:  2016-11

Review 6.  Molecular genetics of metachromatic leukodystrophy.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 7.  Metachromatic leukodystrophy: molecular genetics and an animal model.

Authors:  V Gieselmann; U Matzner; B Hess; R Lüllmann-Rauch; R Coenen; D Hartmann; R D'Hooge; P DeDeyn; G Nagels
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

8.  Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

Authors:  Afshin Yaghootfam; Nicole Baumann; Andreas Schwarz; Volkmar Gieselmann
Journal:  Neurochem Res       Date:  2004-05       Impact factor: 3.996

9.  Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Authors:  U Heinisch; J Zlotogora; S Kafert; V Gieselmann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

10.  Metachromatic leucodystrophy: review of 38 cases.

Authors:  R MacFaul; N Cavanagh; B D Lake; R Stephens; A E Whitfield
Journal:  Arch Dis Child       Date:  1982-03       Impact factor: 3.791
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.