Literature DB >> 5460770

A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state.

N H Bass, E J Witmer, F E Dreifuss.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1970        PMID： 5460770     DOI： 10.1212/wnl.20.1.52

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  9 in total

1.  Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.

Authors:  Françoise Piguet; Dolan Sondhi; Monique Piraud; Françoise Fouquet; Neil R Hackett; Ornella Ahouansou; Marie-Thérèse Vanier; Ivan Bieche; Patrick Aubourg; Ronald G Crystal; Nathalie Cartier; Caroline Sevin
Journal:  Hum Gene Ther       Date:  2012-07-23       Impact factor: 5.695

2.  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

3.  The genetic mismanagement of complex lipid metabolism.

Authors:  R O Brady
Journal:  Bull N Y Acad Med       Date:  1971-02

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

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

5.  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

6.  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

7.  [Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].

Authors:  E Czmok; F Regli; K Harzer; H U Benz
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1974

8.  Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

Authors:  J Zlotogora; G Bach; Y Barak; E Elian
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025

9.  Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice.

Authors:  Emilie Audouard; Valentin Oger; Béatrix Meha; Nathalie Cartier; Caroline Sevin; Françoise Piguet
Journal:  Front Mol Neurosci       Date:  2021-05-21       Impact factor: 5.639
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.