Works matching DE "ACUTE intermittent porphyria"

Results: 171
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    Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006
    By:
    • Klippel, Claire;
    • Park, Jiwoon;
    • Sandin, Sean;
    • Winstone, Tara M. L.;
    • Chen, Xue;
    • Orton, Dennis;
    • Singh, Aranjeet;
    • Hill, Jonathan D.;
    • Shahbal, Tareq K.;
    • Hamacher, Emily;
    • Officer, Brandon;
    • Thompson, John;
    • Duong, Phi;
    • Grotzer, Tim;
    • Hahn, Si Houn
    Publication type:
    Article
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    Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.

    Published in:
    Metabolites (2218-1989), 2025, v. 15, n. 2, p. 99, doi. 10.3390/metabo15020099
    By:
    • Badia, Bruno de Mattos Lombardi;
    • Serrano, Paulo de Lima;
    • Barile, João Paulo;
    • Seneor, Daniel Delgado;
    • Mendes, Patrícia Marques;
    • Cavalheiro, Renan Brandão Rambaldi;
    • Peixoto, Kaliny Oliveira;
    • Farias, Igor Braga;
    • Machado, Roberta Ismael Lacerda;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Oliveira, Acary Souza Bulle;
    • Sgobbi, Paulo
    Publication type:
    Article
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    Mortality in Pedigrees with Acute Intermittent Porphyria.

    Published in:
    Life (2075-1729), 2022, v. 12, n. 12, p. 2059, doi. 10.3390/life12122059
    By:
    • Neeleman, Rochus;
    • Musters, Kyra;
    • Wagenmakers, Margreet;
    • Mijnhout, Sophie;
    • Friesema, Edith;
    • Sijbrands, Eric;
    • Langendonk, Janneke
    Publication type:
    Article
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    Dental and Periodontal Health in Acute Intermittent Porphyria.

    Published in:
    Life (2075-1729), 2022, v. 12, n. 8, p. 1270, doi. 10.3390/life12081270
    By:
    • Storjord, Elin;
    • Airila-Månsson, Stella;
    • Karlsen, Katarzyna;
    • Madsen, Martin;
    • Dahl, Jim André;
    • Landsem, Anne;
    • Fure, Hilde;
    • Ludviksen, Judith Krey;
    • Fjøse, Johannes Østrem;
    • Dickey, Amy K.;
    • Karlsen, Bård Ove;
    • Waage Nielsen, Erik;
    • Mollnes, Tom Eirik;
    • Brekke, Ole-Lars
    Publication type:
    Article
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    Neurological Complications of Acute Intermittent Porphyria.

    Published in:
    European Neurology, 2011, v. 66, n. 5, p. 247, doi. 10.1159/000330683
    By:
    • Kuo, Hung-Chou;
    • Huang, Chin-Chang;
    • Chu, Chun-Che;
    • Lee, Ming-Jen;
    • Chuang, Wen-Li;
    • Wu, Chi-Lin;
    • Wu, Tony;
    • Ning, Hsiao-Chen;
    • Liu, Chih-Yang
    Publication type:
    Article
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    A 22-Year-Old Woman with Abdominal Pain.

    Published in:
    JGIM: Journal of General Internal Medicine, 2014, v. 29, n. 7, p. 1074, doi. 10.1007/s11606-013-2747-z
    By:
    • Jones, Benjamin;
    • Brzezinski, Walter;
    • Estrada, Carlos;
    • Rodriguez, Martin;
    • Kraemer, Ryan
    Publication type:
    Article
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    High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

    Published in:
    2019
    By:
    • Barreda-Sánchez, María;
    • Buendía-Martínez, Juan;
    • Glover-López, Guillermo;
    • Carazo-Díaz, Carmen;
    • Ballesta-Martínez, María Juliana;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Rodriguez-Peña, Lidya;
    • Serrano-Antón, Ana Teresa;
    • Gil-Ferrer, Remedios;
    • Martínez-Romero, Maria del Carmen;
    • Carbonell-Meseguer, Pablo;
    • Guillén-Navarro, Encarna
    Publication type:
    journal article
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    Porphyria and anorexia: cause and effect.

    Published in:
    2014
    By:
    • Martins Jr., Carlos R.;
    • Bandeira, Barbara E. S.;
    • Martinez, Alberto R. M.;
    • Dalgalarrondo, Paulo;
    • França Jr., Marcondes C.
    Publication type:
    Case Study
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    Acute Intermittent Porphyria in Argentina: An Update.

    Published in:
    BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/946387
    By:
    • Cerbino, Gabriela Nora;
    • Gerez, Esther Noemí;
    • Varela, Laura Sabina;
    • Melito, Viviana Alicia;
    • Parera, Victoria Estela;
    • Batlle, Alcira;
    • Rossetti, María Victoria
    Publication type:
    Article
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