𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins

✍ Scribed by Toni Hospach; Pia Lohse; Helmut Heilbronner; Guenther E. Dannecker; Peter Lohse


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
111 KB
Volume
52
Category
Article
ISSN
0004-3591

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


First report of systemic reactive (AA) a
✍ Laura Obici; Carlo Manno; Andrea Onetti Muda; Paolo Picco; Andrea D'Osualdo; Gio πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 137 KB

## Abstract Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this life‐threatening condition varies widely among these disorders, being higher for patients affected by familial Mediterranean fe

Molecular analysis of the MVK and TNFRSF
✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 304 KB πŸ‘ 1 views

## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).