Neonatal lethal hypophosphatasia: A case report and review of literature

Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of...

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Veröffentlicht in:	Medicine (Baltimore) 2018-11, Vol.97 (48), p.e13269-e13269
Hauptverfasser:	Castells, Laura, Cassanello, Pía, Muñiz, Felix, de Castro, María-José, Couce, María L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical Case Report Diagnosis, Differential Fatal Outcome Humans Hypophosphatasia - diagnosis Hypophosphatasia - genetics Infant, Newborn Male Perinatal Death
Online-Zugang:	Volltext
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