𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical presentation and mutations in Danish patients with Wilson disease

✍ Scribed by Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard; Vissing, John; Wibrand, Flemming; Jennum, Poul; Ott, Peter


Book ID
109849521
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
333 KB
Volume
19
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Parkinson's disease in Ireland: Clinical
✍ Joseph Wiley; Timothy Lynch; Sarah Lincoln; Lisa Skipper; Mary Hulihan; David Go 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB

## Abstract Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients,

Haplotype and mutation analysis in Medit
✍ Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; Mario Pirastu; A 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 1 views

Wilson disease is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPasi (ATP7B). We have carried out mutational analysis in 295 patients of Mediterranean origin with Wilson Disease, including 85 Sardinians, 120 Continental It