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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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| Veröffentlicht in: | J Clin Res Pediatr Endocrinol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Galenos Publishing
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5096504/ https://ncbi.nlm.nih.gov/pubmed/27086862 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2798 |
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