bone disease and genetic disorders Archives

Abstract Number: 355 • ACR/ARHP Annual Meeting 2015
The Clinical and Genetic Spectrum of Low Alkaline Phosphatase in Adults
Leyre Riancho-Zarrabeitia¹, Maria T. García-Unzueta², Jair A. Tenorio³, Juan Gómez-Gerique⁴, Víctor L Ruiz Pérez³, Karen E. Heath³, Pablo Lapunzina³ and José A. Riancho⁵, ¹Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, ²Biochemistry, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, ³Institute of Medical and Molecular Genetics. Hospital U. La Paz. IdiPAZ. Autonomous University of Madrid. CIBERER., Madrid, Spain, ⁴Biochemistry, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain, ⁵Internal Medicine, Hospital Universitario Marqués de Valdecilla. IDIVAL. University of Cantabria, Santander, Spain
Background/Purpose: Different from infantile forms, adult forms of hypophosphatasia have less severe manifestations and may go unrecognized. Low serum levels of alkaline phosphatase (ALP), the…
Abstract Number: 1448 • ACR/ARHP Annual Meeting 2015
Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) – a Single Center Case Series
Renate Haefner, Boris Huegle and Johannes Peter Haas, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany
Background/Purpose: Progressive pseudorheumatoid arthropathy of childhood (PPAC, OMIM #208230) is a bone dysplasia caused by mutations in the WISP3 gene. Due to its presentation…

Abstracts tagged "bone disease and genetic disorders"

The Clinical and Genetic Spectrum of Low Alkaline Phosphatase in Adults

Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) – a Single Center Case Series