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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Taylor & Francis
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473191/ https://www.ncbi.nlm.nih.gov/pubmed/28638573 http://dx.doi.org/10.1080/20009666.2017.1317535 |