Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

Hypophosphatasia (HPP) is a rare metabolic disease with the hallmark finding of deficient serum tissue nonspecific alkaline phosphatase (TNSALP) activity. TNSALP is primarily known for its role in mineralization; hence, HPP is characterized by defective mineralization of bone and/or teeth. TNSALP is...

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Main Authors: Belachew, Dina, Kazmerski, Traci, Libman, Ingrid, Goldstein, Amy C., Stevens, Susan T., DeWard, Stephanie, Vockley, Jerry, Sperling, Mark A., Balest, Arcangela L.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755558/
https://ncbi.nlm.nih.gov/pubmed/23479201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_217
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