Article
Normal Mid-Gestation Fetal Ultrasonography Cannot Reliably Exclude Severe Perinatal Hypophosphatasia.
Hormone research in paediatrics - 1 Jan 2021
Chinoy Amish, Iruloh Chibuike, Kerr Bronwyn, Mughal M Zulf, Padidela Raja
Abstract excerpt
INTRODUCTION: Hypophosphatasia is a systemic bone disease characterized by inhibition of bone mineralization due to mutations in the ALPL gene that results in a deficiency of tissue nonspecific alkaline phosphatase. The perinatal form is the most severe. In the past, this form was lethal, although human recombinant enzyme replacement therapy has now been developed and licensed, which improves survival. Perinatal...
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