Article
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2015
Cundy Tim, Michigami Toshimi, Tachikawa Kanako, Dray Michael, Collins John F, Paschalis Eleftherios P, Gamsjaeger Sonja, Roschger Andreas, Fratzl-Zelman Nadja, Roschger Paul, Klaushofer Klaus
Abstract excerpt
Hypophosphatasia is an inborn error of metabolism caused by mutations in the ALPL gene. It is characterized by low serum alkaline phosphatase (ALP) activity and defective mineralization of bone, but the phenotype varies greatly in severity depending on the degree of residual enzyme activity. We describe a man with compound heterozygous mutations in ALPL, but no previous bone disease, who suffered numerous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.