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Neuropsychiatric Disease and Treatment Volume 10, 2014 - Issue
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Case Report

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Majid Alfadhel1 Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia;3 College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi ArabiaCorrespondence[email protected]
,
Neam Saleh2 Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia
,
Helal Alenazi2 Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia
&
Henry Baffoe-Bonnie2 Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia
Pages 2135-2137 | Published online: 12 Nov 2014

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Andrea Ricci & Paolo Ventura. (2022) Givosiran for the treatment of acute hepatic porphyria. Expert Review of Clinical Pharmacology 15:4, pages 383-393.
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Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz & Acary Souza Bulle Oliveira. (2023) Brazilian registry of patients with porphyria: REBRAPPO study. Orphanet Journal of Rare Diseases 18:1.
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Karl E. Anderson, Robert J. Desnick, M. Felicity Stewart, Paolo Ventura & Herbert L. Bonkovsky. (2022) Acute Hepatic Porphyrias: “Purple Flags”—Clinical Features That Should Prompt Specific Diagnostic Testing. The American Journal of the Medical Sciences 363:1, pages 1-10.
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Yi Ren, Lin-Xin Xu, Yun-Feng Liu, Chen-Yu Xiang, Fei Gao, Yan Wang, Tao Bai, Jian-Hong Yin, Yang-Lu Zhao & Jing Yang. (2018) A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family. Medicine 97:37, pages e12295.
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Shadi Alshammary, Reem Al Dulaijan, Khaldoon Saleh, Hazem Zakaria, Ahmed Eldamati, Norah Alwakeel & Abdulmohsen Al-Mulhim. (2017) Acute intermittent porphyria after right hemi-colectomy. International Journal of Surgery Case Reports 40, pages 116-119.
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