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An Uncommon Case of Hypophophatasia Presenting With Galactorrhea, Diagnosed at a Later Age Than Expected

Hypophosphatasia is a rare genetic disorder which causes accumulation of inorganic pyrophosphate that in turn inhibits mineralization. It is caused by a mutation in the non-specific alkaline phosphatase gene (TNSALP). We will review the diagnosis during adulthood when the presentation is characteriz...

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Detalles Bibliográficos
Autores principales: Bicchi, Amelia Guzman, Heinsen, Antonio Lubrano, Sevilla, Marla, Tourtelot, John, Gomez-Daspet, Joaquin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266082/
http://dx.doi.org/10.1210/jendso/bvab048.365