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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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Detalles Bibliográficos
Autores principales:	Esmel-Vilomara, Roger, Hernández, Susana, Campos-Martorel, Ariadna, González-Roca, Eva, Yeste, Diego, Castillo, Félix
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127881/ https://www.ncbi.nlm.nih.gov/pubmed/30929401 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0263

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