Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation o...

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Detalles Bibliográficos
Autores principales: Güzel Nur, Banu, Çelmeli, Gamze, Manguoğlu, Esra, Soyucen, Erdoğan, Bircan, İffet, Mıhçı, Ercan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096504/
https://www.ncbi.nlm.nih.gov/pubmed/27086862
http://dx.doi.org/10.4274/jcrpe.2798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096504/
https://www.ncbi.nlm.nih.gov/pubmed/27086862
http://dx.doi.org/10.4274/jcrpe.2798

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