๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Molecular genetics of metachromatic leukodystrophy

โœ Scribed by V. Gieselmann; A. Polten; J. Kreysing; K. Figura


Publisher
Springer
Year
1994
Tongue
English
Weight
689 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Molecular genetics of metachromatic leuk
โœ Volkmar Gieselmann; Joel Zlotogora; Ann Harris; David A. Wenger; C. Phillip Morr ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 897 KB

Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip

Sulfatide excreting heterozygous carrier
โœ Harzer, K. ;Recke, A. S. ๐Ÿ“‚ Article ๐Ÿ“… 1975 ๐Ÿ› Springer-Verlag โš– 554 KB

In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arylsulfatase A activities of 5--6O/o . The patients' healthy father was characterized biochemicMly by a 39% normal activity of leukoeyte plus plasma arylsulfatase A. The father was further charac