Article
Hypophosphatasia may lead to bone fragility: don't miss it.
European journal of pediatrics - 1 Jul 2009
Moulin Pierre, Vaysse Frédéric, Bieth Eric, Mornet Etienne, Gennero Isabelle, Dalicieux-Laurencin Sara, Baunin Christiane, Tauber Marie Thérèse, De Gauzy Jérôme Sales, Salles Jean Pierre
Abstract excerpt
Hypophosphatasia is an inheritable disorder characterised by defective bone mineralisation due to the impaired activity of tissue-non-specific alkaline phosphatase (AP). Clinical presentation ranges from stillbirth without mineralised bone to pathological fractures in late adulthood. During childhood, the main manifestations include rickets, growth delay and dental problems. Fractures and bone pain usually...
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