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Journal Abstract Search

340 related items for PubMed ID: 32614911

  • 1. Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria.
    Cohen AM, Chamberlin S, Deloughery T, Nguyen M, Bedrick S, Meninger S, Ko JJ, Amin JJ, Wei AJ, Hersh W.
    PLoS One; 2020; 15(7):e0235574. PubMed ID: 32614911
    [Abstract] [Full Text] [Related]

  • 2. Reducing diagnostic delays in Acute Hepatic Porphyria using electronic health records data and machine learning: a multicenter development and validation study.
    Bhasuran B, Schmolly K, Kapoor Y, Jayakumar NL, Doan R, Amin J, Meninger S, Cheng N, Deering R, Anderson K, Beaven SW, Wang B, Rudrapatna VA.
    medRxiv; 2023 Aug 31. PubMed ID: 37693437
    [Abstract] [Full Text] [Related]

  • 3. Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.
    Bhasuran B, Schmolly K, Kapoor Y, Jayakumar NL, Doan R, Amin J, Meninger S, Cheng N, Deering R, Anderson K, Beaven SW, Wang B, Rudrapatna VA.
    J Am Med Inform Assoc; 2025 Jan 01; 32(1):63-70. PubMed ID: 38946554
    [Abstract] [Full Text] [Related]

  • 4. Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.
    Wheeden K, Lyon Howe D, Burrell S, Gill L, Chamberlayne J, Williams ER, Simon A, Ko JJ, Mora J, Wells T, Evans C, Paulich M, Meninger S, Lombardelli S.
    Adv Ther; 2022 Sep 01; 39(9):4330-4345. PubMed ID: 35907153
    [Abstract] [Full Text] [Related]

  • 5. Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.
    Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S.
    Am J Med Sci; 2021 Aug 01; 362(2):113-121. PubMed ID: 33865828
    [Abstract] [Full Text] [Related]

  • 6. Acute Hepatic Porphyrias: "Purple Flags"-Clinical Features That Should Prompt Specific Diagnostic Testing.
    Anderson KE, Desnick RJ, Stewart MF, Ventura P, Bonkovsky HL.
    Am J Med Sci; 2022 Jan 01; 363(1):1-10. PubMed ID: 34606756
    [Abstract] [Full Text] [Related]

  • 7. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
    Wang B, Bonkovsky HL, Lim JK, Balwani M.
    Gastroenterology; 2023 Mar 01; 164(3):484-491. PubMed ID: 36642627
    [Abstract] [Full Text] [Related]

  • 8. The clinical importance of early acute hepatic porphyria diagnosis: a national cohort.
    Edel Y, Mamet R, Cohen S, Shepshelovich D, Levi A, Sagy I.
    Intern Emerg Med; 2021 Jan 01; 16(1):133-139. PubMed ID: 32372331
    [Abstract] [Full Text] [Related]

  • 9. PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
    Riera-Mestre A, García Morillo JS, Castelbón Fernández J, Hernández-Contreras ME, Aguilera Peiró P, Jacob J, Martínez Valle F, Guillén-Navarro E, Morales-Conejo M.
    Rev Clin Esp (Barc); 2024 May 01; 224(5):272-280. PubMed ID: 38642893
    [Abstract] [Full Text] [Related]

  • 10. Clinical study applying machine learning to detect a rare disease: results and lessons learned.
    Hersh WR, Cohen AM, Nguyen MM, Bensching KL, Deloughery TG.
    JAMIA Open; 2022 Jul 01; 5(2):ooac053. PubMed ID: 35783073
    [Abstract] [Full Text] [Related]

  • 11. Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.
    Marcacci M, Ricci A, Cuoghi C, Marchini S, Pietrangelo A, Ventura P.
    Orphanet J Rare Dis; 2022 Apr 07; 17(1):160. PubMed ID: 35392955
    [Abstract] [Full Text] [Related]

  • 12. Expert consensus statement on acute hepatic porphyria in Belgium.
    Gilles A, Vermeersch S, Vermeersch P, Wolff F, Cotton F, Tilleux S, Cassiman D.
    Acta Clin Belg; 2022 Aug 07; 77(4):735-741. PubMed ID: 34369323
    [Abstract] [Full Text] [Related]

  • 13. Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
    Lissing M, Vassiliou D, Floderus Y, Harper P, Bottai M, Kotopouli M, Hagström H, Sardh E, Wahlin S.
    J Intern Med; 2022 Jun 07; 291(6):824-836. PubMed ID: 35112415
    [Abstract] [Full Text] [Related]

  • 14. Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.
    Horie Y, Yasuoka Y, Adachi T.
    Orphanet J Rare Dis; 2023 Dec 08; 18(1):384. PubMed ID: 38066651
    [Abstract] [Full Text] [Related]

  • 15. Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
    Lissing M, Vassiliou D, Floderus Y, Harper P, Yan J, Hagström H, Sardh E, Wahlin S.
    J Inherit Metab Dis; 2023 Mar 08; 46(2):286-299. PubMed ID: 36546345
    [Abstract] [Full Text] [Related]

  • 16. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
    Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS.
    Mol Genet Metab; 2020 Dec 08; 131(4):418-423. PubMed ID: 33199206
    [Abstract] [Full Text] [Related]

  • 17. Acute hepatic porphyria and cancer risk: a nationwide cohort study.
    Baravelli CM, Sandberg S, Aarsand AK, Nilsen RM, Tollånes MC.
    J Intern Med; 2017 Sep 08; 282(3):229-240. PubMed ID: 28730628
    [Abstract] [Full Text] [Related]

  • 18. Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.
    Wang B, Ventura P, Takase KI, Thapar M, Cassiman D, Kubisch I, Liu S, Sweetser MT, Balwani M.
    Orphanet J Rare Dis; 2022 Aug 26; 17(1):327. PubMed ID: 36028858
    [Abstract] [Full Text] [Related]

  • 19. Rule-based and machine learning algorithms identify patients with systemic sclerosis accurately in the electronic health record.
    Jamian L, Wheless L, Crofford LJ, Barnado A.
    Arthritis Res Ther; 2019 Dec 30; 21(1):305. PubMed ID: 31888720
    [Abstract] [Full Text] [Related]

  • 20. Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.
    Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ.
    Mol Genet Metab; 2016 Nov 30; 119(3):278-283. PubMed ID: 27595545
    [Abstract] [Full Text] [Related]

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