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Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

• Authors : Balwani M; Department of Genetics and Genomic Sciences and Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address: .

Subjects: Disease Management* ; Genes, X-Linked*; Porphyrias, Hepatic/Porphyrias, Hepatic/Porphyrias, Hepatic/*genetics

• Source: Molecular genetics and metabolism [Mol Genet Metab] 2019 Nov; Vol. 128 (3), pp. 298-303. Date of Electronic Publication: 2019 Jan 24.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Acute hepatic porphyrias: Current diagnosis & management.

• Authors : Anderson KE; The University of Texas Medical Branch, Department of Preventive Medicine and Community Health and Internal Medicine, 301 University Boulevard, Galveston, TX 77555-1109, United States of America. Electronic address: .

Subjects: Disease Management*; Porphobilinogen Synthase/Porphobilinogen Synthase/Porphobilinogen Synthase/*deficiency ; Porphyrias, Hepatic/Porphyrias, Hepatic/Porphyrias, Hepatic/*diagnosis Porphyria, Acute Hepatic

• Source: Molecular genetics and metabolism [Mol Genet Metab] 2019 Nov; Vol. 128 (3), pp. 219-227. Date of Electronic Publication: 2019 Jul 05.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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《2017年美国推进转化科学中心罕见疾病临床研究M络 卟啉病联合会：急性肝卟啉病的评估和长期管理建议》摘译

• Authors : 陈　洋译; 李晓青

• Source: Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi; Nov2017, Vol. 33 Issue 11, p2083-2086, 4p

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Acute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks.

• Authors : Wilson-Baig, N.^1,2 (AUTHOR) ; Badminton, M.³ (AUTHOR); Schulenburg-Brand, D.³ (AUTHOR)

Subjects: *ANESTHESIA; *ARGININE; *DISEASE management

• Source: BJA Education. Feb2021, Vol. 21 Issue 2, p66-74. 9p.

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