Abstracts tagged "bone disease and genetic disorders"

Abstract Number: 355 • 2015 ACR/ARHP Annual Meeting
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 • 2015 ACR/ARHP Annual Meeting
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…

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