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 *

175 related articles for article (PubMed ID: 23146290)

  • 41. 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]  

  • 42. Current advances in the understanding and treatment of mevalonate kinase deficiency.
    Esposito S; Ascolese B; Senatore L; Bosis S; Verrecchia E; Cantarini L; Rigante D
    Int J Immunopathol Pharmacol; 2014; 27(4):491-8. PubMed ID: 25572728
    [TBL] [Abstract][Full Text] [Related]  

  • 43. The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria.
    Celec P; Behuliak M
    Med Hypotheses; 2008; 70(5):938-40. PubMed ID: 18037572
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
    Simon A; Kremer HP; Wevers RA; Scheffer H; De Jong JG; Van Der Meer JW; Drenth JP
    Neurology; 2004 Mar; 62(6):994-7. PubMed ID: 15037710
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Allogeneic bone marrow transplantation in mevalonic aciduria.
    Neven B; Valayannopoulos V; Quartier P; Blanche S; Prieur AM; Debré M; Rolland MO; Rabier D; Cuisset L; Cavazzana-Calvo M; de Lonlay P; Fischer A
    N Engl J Med; 2007 Jun; 356(26):2700-3. PubMed ID: 17596604
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
    Santos JA; Aróstegui JI; Brito MJ; Neves C; Conde M
    Gene; 2014 Jun; 542(2):217-20. PubMed ID: 24656624
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
    Hoffmann G; Gibson KM; Brandt IK; Bader PI; Wappner RS; Sweetman L
    N Engl J Med; 1986 Jun; 314(25):1610-4. PubMed ID: 3012338
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Mevalonic acidemia: first case of Japan.
    Okamoto N; Nakayama M; Narahara C; Kim H; Fujioka M; Imada I; Arai T; Toda S
    Jpn J Hum Genet; 1997 Sep; 42(3):441-4. PubMed ID: 12503192
    [TBL] [Abstract][Full Text] [Related]  

  • 50. [Hyperimmunoglobulinemia D and periodic fever syndrome].
    Agbo-kpati KP; Condor R; Hollenberg H; Chalvon Demersay A; Cuisset L; Quartier P
    Arch Pediatr; 2014 Jul; 21(7):765-7. PubMed ID: 24935455
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
    Mandey SH; Schneiders MS; Koster J; Waterham HR
    Hum Mutat; 2006 Aug; 27(8):796-802. PubMed ID: 16835861
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Cholesterol metabolism deficiency.
    Jira P
    Handb Clin Neurol; 2013; 113():1845-50. PubMed ID: 23622407
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.
    Munoz MA; Skinner OP; Masle-Farquhar E; Jurczyluk J; Xiao Y; Fletcher EK; Kristianto E; Hodson MP; O'Donoghue SI; Kaur S; Brink R; Zahra DG; Deenick EK; Perry KA; Robertson AA; Mehr S; Hissaria P; Mulders-Manders CM; Simon A; Rogers MJ
    J Clin Invest; 2022 Oct; 132(19):. PubMed ID: 36189795
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. Mevalonate kinase deficiency and Dutch type periodic fever.
    Frenkel J; Houten SM; Waterham HR; Wanders RJ; Rijkers GT; Kimpen JL; Duran R; Poll-The BT; Kuis W
    Clin Exp Rheumatol; 2000; 18(4):525-32. PubMed ID: 10949735
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
    Parvaneh N; Ziaee V; Moradinejad MH; Touitou I
    J Clin Immunol; 2014 Jan; 34(1):123-6. PubMed ID: 24177804
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity.
    Chiu M; Garabon J; Chen L; Karp N; Kapoor A; Woolfson JP
    Hepatology; 2021 Sep; 74(3):1702-1704. PubMed ID: 33638873
    [No Abstract]   [Full Text] [Related]  

  • 58. Putative modifier genes in mevalonate kinase deficiency.
    Marcuzzi A; Vozzi D; Girardelli M; Tricarico PM; Knowles A; Crovella S; Vuch J; Tommasini A; Piscianz E; Bianco AM
    Mol Med Rep; 2016 Apr; 13(4):3181-9. PubMed ID: 26935981
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.
    Hoffmann GF; Sweetman L; Bremer HJ; Hunneman DH; Hyánek J; Kozich V; Lehnert W; Nyhan WL; Speidel I; Trefz FK
    Clin Chim Acta; 1991 May; 198(3):209-27. PubMed ID: 1653652
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
    Bianco AM; Faletra F; Vozzi D; Girardelli M; Knowles A; Tommasini A; Zauli G; Marcuzzi A
    Mol Med Rep; 2015 Oct; 12(4):6128-32. PubMed ID: 26300074
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.