Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

• Main Authors: Roger Esmel-Vilomara (Author), Susana Hernández (Author), Ariadna Campos-Martorel (Author), Eva González-Roca (Author), Diego Yeste (Author), Félix Castillo (Author)
• Format: Book
• Published: Galenos Yayincilik, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...