Imaging patterns in pediatric hypophosphatasia

Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of the bones and teeth. Hypophosphatasia is characterized by low serum alkaline phosphatase activity and a number of clinical signs, including failure to...

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Veröffentlicht in:	Pediatric radiology 2022-05, Vol.52 (5), p.998-1006
Hauptverfasser:	Mannes, Inès, Rothenbuhler, Anya, Merzoug, Valérie, Di Rocco, Federico, Linglart, Agnès, Adamsbaum, Catherine
Format:	Artikel
Sprache:	eng
Schlagworte:	Alkaline phosphatase Alkaline Phosphatase - genetics Alkaline Phosphatase - therapeutic use Bone imaging Bones Calcium metabolism Calcium phosphates Child Diagnosis Enzyme Replacement Therapy - methods Genetic disorders Genetic screening Humans Hypophosphatasia Hypophosphatasia - diagnostic imaging Imaging Magnetic Resonance Imaging Medical imaging Medicine Medicine & Public Health Mineralization Mutation Neuroradiology Nuclear Medicine Oncology Pediatrics Phosphatase Pictorial Essay Radiology Ultrasound Whole Body Imaging
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