𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice

✍ Scribed by Guoying Liang; Lee D. Katz; Karl L. Insogna; Thomas O. Carpenter; Carolyn M. Macica


Publisher
Springer
Year
2009
Tongue
English
Weight
864 KB
Volume
85
Category
Article
ISSN
1432-0827

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Targeted inactivation of the X-linked ad
✍ Sonja Forss-Petter; Hauke Werner; Johannes Berger; Hans Lassmann; Brunhilde Molz πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 1021 KB

In its severe form, X-linked adrenoleukodystrophy (ALD) is a lethal neurologic disease of children, characterized by progressive cerebral demyelination and adrenal insufficiency. Associated with a biochemical defect of peroxisomal ␀-oxidation, very long-chain fatty acids (VLCFA) build up in tissues

Characterization of 11 novel mutations i
✍ BΓ©nΓ©dicte GΓ©rard; Jamel El Benna; FranΓ§oise Alcain; Marie-Anne Gougerot-Pocidalo πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 19 KB

The most frequent form of chronic granulomatous disease (CGD) is caused by inactivation of the CYBB gene, which encodes the gp91-phox subunit of phagocyte NADPH oxidase. This defect prevents phagocytes from producing reactive oxygen species and thus from eradicating bacterial and fungal infections.

Characterization of germline mutations o
✍ Tracy L. Hagemann; Fred S. Rosen; Sau-Ping Kwan πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 845 KB

## Communicated by David Ginsburg Bruton's tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA) and has been described as a new member of Srcrelated cytoplasmic protein tyrosine kinases. We have recently characteriz