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Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report

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author: Bülent Hacıhamdioğlu  Gülşen Acar  Serdar Cömert  Gamze Özgürhan  Emre Tepeli 

Publication date November 23, 2018
Language English
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