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Acute intermittent porphyria: a test of clinical acumen
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute...
Uloženo v:
| Vydáno v: | J Community Hosp Intern Med Perspect |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Taylor & Francis
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5473191/ https://ncbi.nlm.nih.gov/pubmed/28638573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/20009666.2017.1317535 |
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