Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

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...

Full description

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

Similar Items

Similar Items