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Clinical Features

Drugs and Acute Porphyrias: Reasons for a Hazardous Relationship

, MD, , MD, , MD & , MD

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Delia D’Avola & Gloria Gonzalez Aseguinolaza. (2016) Prospect and progress of gene therapy in acute intermittent porphyria. Expert Opinion on Orphan Drugs 4:7, pages 711-717.
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Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin & Jing Yang. (2023) Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene. Frontiers in Genetics 14.
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Elena García Verdú, Aiora Blanco Hernández, Lara Maceda García & Ana Belén Piteiro Bermejo. (2023) Lo que las lesiones cicatriciales en el dorso de las manos esconden. Diagnóstico y comentario. Piel 38:9, pages 598-599.
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Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands & Janneke Langendonk. (2022) Mortality in Pedigrees with Acute Intermittent Porphyria. Life 12:12, pages 2059.
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Andrea Ricci, Elena Di Pierro, Matteo Marcacci & Paolo Ventura. (2021) Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias. Diagnostics 11:12, pages 2205.
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Brittany C. KunzSharon A. CenterJohn F. RandolphJanelle D. WalkerApril E. ChoiKarl E. Anderson. (2020) Congenital erythropoietic protoporphyria and protoporphyric hepatopathy in a dog. Journal of the American Veterinary Medical Association 257:11, pages 1148-1156.
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Enrique Esteve-Valverde, Alfonso Tapiz-Reula, Domingo Ruiz & Jaume Alijotas-Reig. (2019) Systemic lupus erythematosus and hydroxychloroquine-related acute intermittent porphyria. Rheumatology International 40:5, pages 777-783.
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Helene J. Bustad, Karen Toska, Caroline Schmitt, Marta Vorland, Lars Skjærven, Juha P. Kallio, Sylvie Simonin, Philippe Letteron, Jarl Underhaug, Sverre Sandberg & Aurora Martinez. (2020) A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria. Molecular Therapy 28:2, pages 677-689.
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Joana Rigor, Sara Almeida Pinto & Daniela Martins-Mendes. (2019) Porphyrias: A clinically based approach. European Journal of Internal Medicine 67, pages 24-29.
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Geok Huey New, Pei-Yang Hsu & Meng-Hsing Wu. (2016) Acute intermittent porphyria exacerbation following in vitro fertilization treatment. Taiwanese Journal of Obstetrics and Gynecology 55:2, pages 281-284.
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Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick & William Querbes. (2015) Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. Molecular Therapy - Nucleic Acids 4, pages e263.
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