Abstracts tagged "Hypophosphatasemia and Metabolic bone diseases"

Abstract Number: 2227 • 2019 ACR/ARP Annual Meeting
Can We Predict Hypophosphatasia-Mutation Result Based on Alkaline Phosphatase Serum Levels?
Carolina Tornero¹, Victoria Navarro-Compán ², Jair Antonio Tenorio ³, Sara García ⁴, Antonio Buño ⁵, Irene Monjo ⁶, Chamaida Plasencia ⁷, Jose María Iturzaeta ⁸, Pablo Lapunzina ³, Karen Heath ³, Alejandro Balsa ⁷ and Pilar Aguado ¹, ¹Rheumatology Department. La Paz University Hospital., Madrid, ²University Hospital La Paz, IdiPaz, Madrid, Spain, ³Genetics Department. La Paz University Hospital. CIBERER, Madrid, ⁴Rheumatology Department. La Paz University Hospital, Madrid, ⁵Clinical Biochemistry, La Paz University Hospital, Madrid, ⁶FIBHULP-IdiPAZ-Hospital La Paz-Rheumatology, Madrid, Spain, ⁷Immuno-Rheumatology Research Group, IdiPaz & Rheumatology Department. La Paz University Hospital, Madrid, Spain, ⁸Clinical Biochemisty. La Paz University Hospital, Madrid
Background/Purpose: Hypophosphatasia (HPP) is caused by mutations in ALPL, resulting in low alkaline phosphatase (ALP) levels. The determination of ALPL mutation may not be accessible…

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