These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 29451047)

  • 1. National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
    Tanaka T; Yoshioka K; Nishikomori R; Sakai H; Abe J; Yamashita Y; Hiramoto R; Morimoto A; Ishii E; Arakawa H; Kaneko U; Ohshima Y; Okamoto N; Ohara O; Hata I; Shigematsu Y; Kawai T; Yasumi T; Heike T
    Mod Rheumatol; 2019 Jan; 29(1):181-187. PubMed ID: 29451047
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
    Munoz MA; Jurczyluk J; Simon A; Hissaria P; Arts RJW; Coman D; Boros C; Mehr S; Rogers MJ
    Front Immunol; 2019; 10():1900. PubMed ID: 31474985
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
    Omoyinmi E; Rowczenio D; Sebire N; Brogan PA; Eleftheriou D
    Pediatr Rheumatol Online J; 2021 Nov; 19(1):161. PubMed ID: 34809655
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis].
    Yamashita Y; Matsumoto S; Hiramoto R; Komori I; Tanaka T; Nishikomori R; Heike T; Umetsu S; Inui A
    Nihon Rinsho Meneki Gakkai Kaishi; 2017; 40(2):131-137. PubMed ID: 28603204
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
    Dunn K; Pasternak B; Kelsen JR; Sullivan KE; Dawany N; Wright BL
    Ann Allergy Asthma Immunol; 2018 Feb; 120(2):214-215. PubMed ID: 29290516
    [No Abstract]   [Full Text] [Related]  

  • 6. A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
    Berody S; Galeotti C; Koné-Paut I; Piram M
    Joint Bone Spine; 2015 Jul; 82(4):240-4. PubMed ID: 25677409
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
    van der Burgh R; Ter Haar NM; Boes ML; Frenkel J
    Clin Immunol; 2013 Jun; 147(3):197-206. PubMed ID: 23110805
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
    Samkari A; Borzutzky A; Fermo E; Treaba DO; Dedeoglu F; Altura RA
    Pediatrics; 2010 Apr; 125(4):e964-8. PubMed ID: 20194276
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
    Correa ARE; Gupta N; Bagri N; Vignesh P; Alam S; Yamaguchi S
    Indian Pediatr; 2020 Feb; 57(2):180-181. PubMed ID: 32060250
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
    Mezzavilla M; Moura RR; Celsi F; Tricarico PM; Crovella S
    Rheumatol Int; 2018 Jan; 38(1):121-127. PubMed ID: 29234874
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
    Brennenstuhl H; Nashawi M; Schröter J; Baronio F; Beedgen L; Gleich F; Jeltsch K; von Landenberg C; Martini S; Simon A; Thiel C; Tsiakas K; Opladen T; Kölker S; Hoffmann GF; Haas D;
    J Inherit Metab Dis; 2021 Sep; 44(5):1272-1287. PubMed ID: 34145613
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
    Kellner U; Stöhr H; Weinitz S; Farmand G; Weber BHF
    Ophthalmic Genet; 2017; 38(4):340-344. PubMed ID: 28095071
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Mevalonate kinase deficiency].
    Galeotti C
    Rev Prat; 2023 Oct; 73(8):850-854. PubMed ID: 38354005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
    Peciuliene S; Burnyte B; Gudaitiene R; Rusoniene S; Drazdiene N; Liubsys A; Utkus A
    Pediatr Rheumatol Online J; 2016 Mar; 14(1):19. PubMed ID: 27012807
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evolutionary hypothesis of the Mevalonate Kinase Deficiency.
    Vuch J; Marcuzzi A; Bianco AM; Tommasini A; Zanin V; Crovella S
    Med Hypotheses; 2013 Jan; 80(1):67-9. PubMed ID: 23168296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
    Yıldız Ç; Gezgin Yıldırım D; Inci A; Tümer L; Cengiz Ergin FB; Sunar Yayla ENS; Esmeray Şenol P; Karaçayır N; Eğritaş Gürkan Ö; Okur I; Ezgü FS; Bakkaloğlu SA
    Joint Bone Spine; 2023 Jan; 90(1):105490. PubMed ID: 36410683
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
    Stabile A; Compagnone A; Napodano S; Raffaele CG; Patti M; Rigante D
    Rheumatol Int; 2013 Dec; 33(12):3039-42. PubMed ID: 23239036
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
    Politiek FA; Turkenburg M; Koster J; Ofman R; Waterham HR
    J Inherit Metab Dis; 2024 Mar; 47(2):302-316. PubMed ID: 38131282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
    Ter Haar NM; Jeyaratnam J; Lachmann HJ; Simon A; Brogan PA; Doglio M; Cattalini M; Anton J; Modesto C; Quartier P; Hoppenreijs E; Martino S; Insalaco A; Cantarini L; Lepore L; Alessio M; Calvo Penades I; Boros C; Consolini R; Rigante D; Russo R; Pachlopnik Schmid J; Lane T; Martini A; Ruperto N; Frenkel J; Gattorno M;
    Arthritis Rheumatol; 2016 Nov; 68(11):2795-2805. PubMed ID: 27213830
    [TBL] [Abstract][Full Text] [Related]  

  • 20. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
    Ozen S; Kuemmerle-Deschner JB; Cimaz R; Livneh A; Quartier P; Kone-Paut I; Zeft A; Spalding S; Gul A; Hentgen V; Savic S; Foeldvari I; Frenkel J; Cantarini L; Patel D; Weiss J; Marinsek N; Degun R; Lomax KG; Lachmann HJ
    Arthritis Care Res (Hoboken); 2017 Apr; 69(4):578-586. PubMed ID: 27723279
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.