Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are i...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Demirbilek, Hüseyin, Alanay, Yasemin, Alikaşifoğlu, Ayfer, Topçu, Meral, Mornet, Etienne, Özön, Alev, Kandemir, Nurgün
Formato: Artigo
Idioma:Inglês
Publicado: Galenos Publishing 2012
Assuntos:
Case Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3316461/
https://ncbi.nlm.nih.gov/pubmed/22394703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.473
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares