๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms

โœ Scribed by Andreas Perrot; Karl Josef Osterziel; Michael Beck; Rainer Dietz; Christoph Kampmann

Book ID
105773230
Publisher
Urban and Vogel
Year
2002
Tongue
German
Weight
88 KB
Volume
27
Category
Article
ISSN
0340-9937

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๐Ÿ“œ SIMILAR VOLUMES

A novel A97P amino acid substitution in
A novel A97P amino acid substitution in ฮฑ-galactosidase A leads to a classical Fabry disease with cardiac manifestations
โœ K. Kimura; K.C. Sato-Matsumura; H. Nakamura; Y. Onodera; K. Morita; N. Enami; T. ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 190 KB

## Background: Fabry disease results from a genetic deficiency of alpha-galactosidase a (gla) activity. phenotype-genotype correlations in this condition have not as yet been fully elucidated. ## Objective: To report a case of a male patient with classical fabry disease and his mother, a heterozy

Proteolipid protein gene duplications ca
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
โœ Ken Inoue; Hitoshi Osaka; Kiyoshi Imaizumi; Atsuo Nezu; Jun-Ichi Takanashi; Junk ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 848 KB

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations involving the proteolipid protein gene (PLP). In addition to point and frameshift mutations in the coding region, duplications involving the entire PLP h