ACUTE INTERMITTENT PORPHYRIA IN CHILDREN: A CASE REPORT AND REVIEW OF THE LITERATURE

Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pedia...

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Vydáno v:Mol Genet Metab
Hlavní autoři: Balwani, Manisha, Singh, Preeti, Seth, Anju, Debnath, Ekta Malik, Naik, Hetanshi, Doheny, Dana, Chen, Brenden, Yasuda, Makiko, Desnick, Robert J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5154763/
https://ncbi.nlm.nih.gov/pubmed/27769855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.10.005
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