Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria
Author:
Publisher
American College of Physicians
Subject
General Medicine,Internal Medicine
Cited by 62 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria;Genes;2020-08-12
2. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias;Genetics in Medicine;2019-11
3. R173W Mutation of Hydroxymethylbilane Synthetase Is Associated With Acute Intermittent Porphyria Complicated With Rhabdomyolysis;Journal of Clinical Gastroenterology;2015-03
4. Porphobilinogen Deaminase Gene Mutations in Polish Patients with Non-Erythroid Acute Intermittent Porphyria;ADV CLIN EXP MED;2015
5. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP);JIMD Reports;2014
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