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An extremely rare combination of acute intermittent porphyria and Turner syndrome
A very rare case of acute intermittent porphyria (AIP) co-existing Turner syndrome (TS) is reported for the first time. A 32-year-old woman was diagnosed with AIP due to recurrent acute abdominal pain, red urine and pathogenic mutation of Hydroxymethyl synthetase (HMBS) gene. At the same time, TS wa...
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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7441035/ https://ncbi.nlm.nih.gov/pubmed/32844070 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03065 |
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