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 *

135 related articles for article (PubMed ID: 11486909)

  • 21. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
    Gibson KM; Hoffmann G; Nyhan WL; Sweetman L; Berger R; le Coultre R; Smit GP
    Eur J Pediatr; 1988 Dec; 148(3):250-2. PubMed ID: 2850914
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. "Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name?
    Celsi F; Tommasini A; Crovella S
    Rheumatol Int; 2014 Mar; 34(3):423-4. PubMed ID: 23412692
    [No Abstract]   [Full Text] [Related]  

  • 24. Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.
    Grose C
    Pediatr Infect Dis J; 2005 Jun; 24(6):573-4. PubMed ID: 15933578
    [TBL] [Abstract][Full Text] [Related]  

  • 25. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
    D'Osualdo A; Picco P; Caroli F; Gattorno M; Giacchino R; Fortini P; Corona F; Tommasini A; Salvi G; Specchia F; Obici L; Meini A; Ricci A; Seri M; Ravazzolo R; Martini A; Ceccherini I
    Eur J Hum Genet; 2005 Mar; 13(3):314-20. PubMed ID: 15536479
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent.
    Aygun D; Sahin S; Cokugras H; Kasapcopur O
    BMJ Case Rep; 2016 May; 2016():. PubMed ID: 27190114
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.
    Gibson KM; Hoffmann GF; Sweetman L; Buckingham B
    J Inherit Metab Dis; 1997 Jul; 20(3):391-4. PubMed ID: 9266363
    [No Abstract]   [Full Text] [Related]  

  • 28. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
    Haas D; Hoffmann GF
    Orphanet J Rare Dis; 2006 Apr; 1():13. PubMed ID: 16722536
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
    Gibson KM; Stellaard F; Hoffmann GF; Rating D; Hrebicek M; Jakobs C
    Clin Chim Acta; 1993 Aug; 217(2):217-20. PubMed ID: 8261631
    [No Abstract]   [Full Text] [Related]  

  • 30. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
    Cuisset L; Drenth JP; Simon A; Vincent MF; van der Velde Visser S; van der Meer JW; Grateau G; Delpech M;
    Eur J Hum Genet; 2001 Apr; 9(4):260-6. PubMed ID: 11313769
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome.
    Frenkel J; Willemsen MA; Weemaes CM; Dorland L; Mayatepek E
    Arch Dis Child; 2001 Aug; 85(2):158-9. PubMed ID: 11466192
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Hyper-IgD syndrome in a patient with IgA immunodeficiency.
    Smerla RG; Agrafiotou C; Fragoulis GE
    Clin Exp Rheumatol; 2018; 36(5):934. PubMed ID: 30148429
    [No Abstract]   [Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
    Hoffmann G; Gibson KM; Nyhan WL; Sweetman L
    J Inherit Metab Dis; 1988; 11 Suppl 2():229-32. PubMed ID: 2846965
    [No Abstract]   [Full Text] [Related]  

  • 36. [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]  

  • 37. Homozygous V377I mutation causing mevalonate kinase.
    Brito T; Banganho D; Pedrosa C; Farela Neves J
    BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35387795
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
    Stojanov S; Lohse P; Lohse P; Hoffmann F; Renner ED; Zellerer S; Kéry A; Shin YS; Haas D; Hoffmann GF; Belohradsky BH
    Arthritis Rheum; 2004 Jun; 50(6):1951-8. PubMed ID: 15188372
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel genotype of mevalonic aciduria with fatalities in premature siblings.
    Raupp P; Varady E; Duran M; Wanders RJ; Waterham HR; Houten SM
    Arch Dis Child Fetal Neonatal Ed; 2004 Jan; 89(1):F90-1. PubMed ID: 14711867
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.