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  • 1-10 of  55 results for ""Porphyria, Acute Intermittent""

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Academic Journal

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report.

  • Authors : Theuriet J; Service d'ENMG et de pathologies neuromusculaires, centre de référence des maladies neuromusculaires PACA-Réunion-Rhône-Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est, Bron, France.; Gerfaud-Valentin M

Subjects: Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/diagnosis ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/complications ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/physiopathology

  • Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Dec; Vol. 29 (4), pp. 567-569. Date of Electronic Publication: 2024 Oct 18.Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.

  • Authors : Lefebvre T; Université Paris Cité, INSERM U1149, Centre de Recherche sur l'Inflammation, Paris, France.; Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares Porphyries, Hôpital Louis Mourier, Colombes, France.

Subjects: Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/urine ; Biomarkers*/Biomarkers*/Biomarkers*/urine ; Metabolomics*/Metabolomics*/Metabolomics*/methods

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12809. Date of Electronic Publication: 2024 Oct 25.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.

  • Authors : Lissing M; Hepatology Division, Department of Upper GI Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.

Subjects: Porphyria, Acute Intermittent* ; Porphyrins*/Porphyrins*/Porphyrins*/urine ; Liver Neoplasms*/Liver Neoplasms*/Liver Neoplasms*/etiology

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1186-1194. Date of Electronic Publication: 2023 Sep 08.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Subjects: Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/diagnosis ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/therapy ; Porphyrias*

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 662-674. Date of Electronic Publication: 2023 May 11.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.

  • Authors : Cassiman D; Department of Gastroenterology-Hepatology and Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.; Kauppinen R

Subjects: Porphyrias, Hepatic*/Porphyrias, Hepatic*/Porphyrias, Hepatic*/drug therapy ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/complications ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/drug therapyPorphyria, Acute Hepatic

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1163-1174. Date of Electronic Publication: 2022 Sep 18.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.

  • Authors : Lefever S; Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.; Peersman N

Subjects: Protoporphyria, Erythropoietic* ; Porphyrias*/Porphyrias*/Porphyrias*/diagnosis ; Porphyria, Acute Intermittent* Protoporphyria, Erythropoietic, X-Linked Dominant

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1151-1162. Date of Electronic Publication: 2022 Aug 26.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria.

  • Authors : Vera-Yunca D; Pharmacometrics & Systems Pharmacology, Department of Pharmaceutical Technology and Chemistry, School of Pharmacy and Nutrition, University of Navarra, Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.

Subjects: Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/drug therapy ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/genetics ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/metabolism

  • Source: British journal of pharmacology [Br J Pharmacol] 2022 Jul; Vol. 179 (14), pp. 3815-3830. Date of Electronic Publication: 2022 Mar 21.Publisher: Wiley Country of Publication: England NLM ID: 7502536 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.

  • Authors : To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.; Wijngaard R

Subjects: Acetylgalactosamine/Acetylgalactosamine/Acetylgalactosamine/*analogs & derivatives ; Arginine/Arginine/Arginine/*deficiency ; Heme/Heme/Heme/*deficiency

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 961-971. Date of Electronic Publication: 2021 May 04.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Report

Acute intermittent porphyria, givosiran, and homocysteine.

  • Authors : Fontanellas A; Hepatology Program, Cima Universidad de Navarra, Pamplona, Spain.; Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.

Subjects: Acetylgalactosamine/Acetylgalactosamine/Acetylgalactosamine/*analogs & derivatives ; Porphyria, Acute Intermittent/Porphyria, Acute Intermittent/Porphyria, Acute Intermittent/*drug therapy ; Pyrrolidines/Pyrrolidines/Pyrrolidines/*therapeutic use

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 790-791. Date of Electronic Publication: 2021 Jun 22.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Disease pharmacokinetic-pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies.

  • Authors : Parra-Guillen ZP; Department of Pharmaceutical Technology and Chemistry, School of Pharmacy and Nutrition, University of Navarra, Pamplona, Spain.; Navarra Institute for Health Research (IdisNA), Pamplona, Spain.

Subjects: Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/drug therapy ; Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/Porphyria, Acute Intermittent*/genetics; Animals

  • Source: British journal of pharmacology [Br J Pharmacol] 2020 Jul; Vol. 177 (14), pp. 3168-3182. Date of Electronic Publication: 2020 Apr 14.Publisher: Wiley Country of Publication: England NLM ID: 7502536 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  55 results for ""Porphyria, Acute Intermittent""