Open AccessSevere perinatal hypophosphatasia case with a novel mutation
Author(s) -
Havva Yazıcı,
Ebru Canda,
Sema Kalkan Uçar,
Mahmut Çöker
Publication year - 2022
Publication title -
archivos argentinos de pediatría
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2022.eng.e21
Subject(s) - hypophosphatasia , medicine , respiratory distress , nephrocalcinosis , alkaline phosphatase , missense mutation , pediatrics , surgery , chemistry , mutation , enzyme , gene , biochemistry , kidney