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Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences

Hypophosphatasia is a genetic disorder, characterised by a dysfunctional tissue-non-specific isoenzyme of alkaline phosphatase that impacts bone metabolism and predisposes to osteomalacia or rickets. The clinical presentation is very diverse, depending on the age of onset and the severity of the dis...

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Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: Belkhouribchia, Jamal, Bravenboer, Bert, Meuwissen, Marije, Velkeniers, Brigitte
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4735159/
https://ncbi.nlm.nih.gov/pubmed/26823351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-212827
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