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Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway. When an enzyme defect has physiological significance, it leads to overproduction of pathway precursors prior to the defectiv...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Intractable Rare Dis Res
Prif Awduron: Ma, Yuelin, Teng, Qing, Zhang, Yiran, Zhang, Songyun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586881/
https://ncbi.nlm.nih.gov/pubmed/33139977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03054
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