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ArticlesPeer ReviewedFull Text
Acute hepatic porphyria in Denmark; a retrospective study
Author / Creator:Wagner, Magnus Emil Ulrich ; Frost, Morten ; Frystyk, Jan
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.93-9, Article 93
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Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria
Author / Creator:Cohen, Aaron M. ; Chamberlin, Steven ; Deloughery, Thomas ; Nguyen, Michelle ; Bedrick, Steven ; Meninger, Stephen ; Ko, John J. ; Amin, Jigar J. ; Wei, Alex J. ; Hersh, William
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-07, Vol.15 (7), p.e0235574-e0235574
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Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013–2023)
Author / Creator:Martínez-Ávila, María C ; Matijasevic-Arcila, Eugenio ; Pantoja-Chica, Stefania ; Acosta-Cardozo, Alieth L
Publisher:London, England: SAGE Publications
Journal title:Journal of international medical research, 2025-03, Vol.53 (3), p.3000605251325183
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ArticlesPeer ReviewedFull Text
Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms
Author / Creator:Cheng, Shanna ; Yu, Elliot ; Garacci, Zhuping ; Erwin, Angelika L. ; Venkatesan, Thangam
Publisher:New York: Springer US
Journal title:Digestive diseases and sciences, 2023-05, Vol.68 (5), p.2107-2114
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ArticlesPeer ReviewedFull Text
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives
Author / Creator:Marcacci, Matteo ; Ricci, Andrea ; Cuoghi, Chiara ; Marchini, Stefano ; Pietrangelo, Antonello ; Ventura, Paolo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.160-160, Article 160
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ArticlesPeer ReviewedFull Text
Multiple roles of haem in cystathionine β-synthase activity: implications for hemin and other therapies of acute hepatic porphyria
Author / Creator:Badawy, Abdulla A.-B.
Publisher:England: Portland Press Ltd The Biochemical Society
Journal title:Bioscience reports, 2021-07, Vol.41 (7)
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ArticlesPeer ReviewedFull Text
Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension
Author / Creator:Serrano, Paulo de Lima ; Badia, Bruno de Mattos Lombardi ; Barile, João Paulo ; Mendes, Patrícia Marques ; Cavalheiro, Renan Brandão Rambaldi ; Peixoto, Kaliny Oliveira ; Farias, Igor Braga ; Machado, Roberta Ismael Lacerda ; Seneor, Daniel Delgado ; Pinto, Wladimir Bocca Vieira de Rezende ; Oliveira, Acary Souza Bulle ; Sgobbi, Paulo
Publisher:Switzerland: MDPI AG
Journal title:Medical sciences (Basel), 2025-02, Vol.13 (1), p.14
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ArticlesPeer ReviewedFull Text
Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mu...
Author / Creator:Hift, Richard J ; Davidson, Brandon P ; van der Hooft, Cornelis ; Meissner, Doreen M ; Meissner, Peter N
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2004-05, Vol.50 (5), p.915-923
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ArticlesPeer ReviewedFull Text
Diagnosing Acute Porphyrias
Author / Creator:Sandberg, Sverre ; Elder, George H
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2004-05, Vol.50 (5), p.803-805
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ArticlesPeer ReviewedFull Text
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
Author / Creator:Gouya, Laurent ; Puy, Hervé ; Robreau, Anne-Marie ; Lyoumi, Said ; Lamoril, Jérome ; Da Silva, Vasco ; Grandchamp, Bernard ; Deybach, Jean-Charles
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2004-02, Vol.114 (3), p.256-262
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ArticlesPeer ReviewedFull Text
Erythropoietic and hepatic porphyrias
Author / Creator:Gross, U. ; Hoffmann, G. F. ; Doss, M. O.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2000-11, Vol.23 (7), p.641-661
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ArticlesPeer ReviewedFull Text
Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Coproporphyria: Case Report and Review of Literature
Author / Creator:Seshabhattar, Praveen ; Morrow, Jay S.
Publisher:United States: Elsevier Limited
Journal title:Endocrine practice, 2007-03, Vol.13 (2), p.164-168
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ArticlesPeer ReviewedFull Text
Unusual Manifestation of Acute Hepatic Porphyria in Pregnancy
Author / Creator:Weinzierl, A. ; Brezinka, C. ; Engelhardt, K.
Publisher:Basel, Switzerland: Karger
Journal title:Fetal diagnosis and therapy, 2007-01, Vol.22 (2), p.136-138
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ArticlesPeer ReviewedFull Text
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria
Author / Creator:De Siervi, Adriana ; Parera, Victoria E. ; del C. Batlle, Alcira M. ; Rossetti, María V.
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-12, Vol.16 (6), p.532-532
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ArticlesPeer ReviewedFull Text
Celiac disease in patients with variegate porphyria
Author / Creator:TWADDLE, Shona ; WASSIF, Wassif S ; DEACON, Allan C ; PETERS, Timothy J
Publisher:Heidelberg: Springer
Journal title:Digestive diseases and sciences, 2001-07, Vol.46 (7), p.1506-1508
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Variegate Porphyria: Past, Present and Future
Author / Creator:Frank, Jorge ; Christiano, Angela M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Skin pharmacology and physiology, 1998-11, Vol.11 (6), p.310-320
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Tuberculosis and Porphyria
Author / Creator:Higgins, Lawrence S.
Publisher:Chicago, IL: The University of Chicago Press
Journal title:Clinical infectious diseases, 1999-09, Vol.29 (3), p.693-694
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ArticlesPeer ReviewedFull Text
Clinical Problem-Solving: Still Hazy after All These Years
Author / Creator:Akasheh, M S
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1995-02, Vol.332 (5), p.332-333
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Clinical problem-solving: still hazy after all these years
Author / Creator:Deacon, A C
Publisher:United States
Journal title:The New England journal of medicine, 1995-02, Vol.332 (5), p.332
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ArticlesPeer ReviewedFull Text
Clinical problem-solving: still hazy after all these years
Author / Creator:Djulbegovic, B
Publisher:United States
Journal title:The New England journal of medicine, 1995-02, Vol.332 (5), p.333-333
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Acute hepatic porphyria in Denmark; a retrospective study

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Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

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Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013–2023)

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Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms

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Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives

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Multiple roles of haem in cystathionine β-synthase activity: implications for hemin and other therapies of acute hepatic porphyria

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Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension

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Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mu...

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Diagnosing Acute Porphyrias

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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

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Erythropoietic and hepatic porphyrias

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Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Coproporphyria: Case Report and Review of Literature

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Unusual Manifestation of Acute Hepatic Porphyria in Pregnancy

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Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

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Celiac disease in patients with variegate porphyria

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Variegate Porphyria: Past, Present and Future

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Tuberculosis and Porphyria

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Clinical Problem-Solving: Still Hazy after All These Years

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Clinical problem-solving: still hazy after all these years

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Clinical problem-solving: still hazy after all these years

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