Jcrpe
 2018
DOI: 10.4274/jcrpe.0217
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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

Bülent Hacıhamdioğlu1,
Gamze Özgürhan2,
Catarina Pereira3
et al.

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

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