Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP). The gene encoding TNAP (ALPL) has considerable allelic heterogeneity, which could explain different degrees of enzyme activity resulting in a...

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Bibliographic Details

Published in:	JCRPE
Main Authors:	Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorel, Eva González-Roca, Diego Yeste, Félix Castillo
Format:	Article
Language:	English
Published:	Pediatric Endocrinology and Diabetes Society 2020-03-01
Subjects:	hypophosphatasia mutation newborn alkaline phosphatase
Online Access:	http://www.jcrpe.org/archives/archive-detail/article-preview/hypophosphatasia-a-novel-mutation-associated-with-/26302