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Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the e...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1979
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1012738/ https://ncbi.nlm.nih.gov/pubmed/458830 |
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