✦ LIBER ✦

The enigma of hyperparathyroidism in hypophosphatemic rickets

✍ Scribed by Claus Peter Schmitt; Otto Mehls

Book ID: 106159478
Publisher: Springer
Year: 2004
Tongue: English
Weight: 148 KB
Volume: 19
Category: Article
ISSN: 0931-041X
DOI: 10.1007/s00467-004-1443-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotype Presentation of Hypophosphatem

Phenotype Presentation of Hypophosphatemic Rickets in Adults

✍ Signe S. Beck-Nielsen; Klaus Brusgaard; Lars M. Rasmussen; Kim Brixen; Bendt Bro 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 307 KB

Dentin Alteration of Deciduous Teeth in

Dentin Alteration of Deciduous Teeth in Human Hypophosphatemic Rickets

✍ T. Boukpessi; D. Septier; S. Bagga; M. Garabedian; M. Goldberg; C. Chaussain-Mil 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 321 KB

Growth in PHEX-associated X-linked hypop

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

✍ Catherine Quinlan; Katie Guegan; Amaka Offiah; Richard O’ Neill; Melanie P. Hior 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 206 KB

Periapical and endodontic status of perm

Periapical and endodontic status of permanent teeth in patients with hypophosphatemic rickets

✍ M. G. ANDERSEN; S. S. BECK-NIELSEN; D. HAUBEK; H. HINTZE; H. GJØRUP; S. POULSEN 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB

A novel Phex mutation in a new mouse mod

A novel Phex mutation in a new mouse model of hypophosphatemic rickets

✍ Celeste Owen; Frieda Chen; Ann M. Flenniken; Lucy R. Osborne; Shoji Ichikawa; S. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 667 KB

Identification of fifteen novel PHEX gen

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

✍ Henna Tyynismaa; Ilkka Kaitila; Kirsti Näntö-Salonen; Marja Ala-Houhala; Tiina A 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of wh