๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

โœ Scribed by Priya S. Kishnani; Alexandra A. Beckemeyer; Nancy J. Mendelsohn


Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
276 KB
Volume
160C
Category
Article
ISSN
1552-4868

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Phytanic acid storage disease (Refsum's
โœ Robert Weinstein ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB ๐Ÿ‘ 2 views

Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths, and in organs including the liver an

The European Water Framework Directive:
โœ Peter Pollard; Mark Huxham ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 167 KB ๐Ÿ‘ 2 views

The forthcoming European Commission Water Framework Directive will introduce catchment management throughout Europe, and could have major impacts on the conservation and restoration of aquatic ecosystems. The Directive is outlined, and the proposed mechanisms for determining water quality status und