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Biotinidase deficiency mimicking primary immune deficiencies
Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia,...
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| Vydáno v: | BMJ Case Rep |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4434368/ https://ncbi.nlm.nih.gov/pubmed/25956498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-209275 |
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