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A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome
Acute intermittent porphyria (AIP) is a rare inherited disorder, which is caused by the partial deficiency of hydroxymethylbilane synthase (HMBS), an enzyme of the heme biosynthetic pathway. Abdominal pain, neuropsychiatric disturbance and neuropathy are the typical manifestations of the disease. Co...
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| 發表在: | Mol Med Rep |
|---|---|
| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
D.A. Spandidos
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7248523/ https://ncbi.nlm.nih.gov/pubmed/32377710 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11117 |
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