70 related articles for article (PubMed ID: 17978300)
1. Mevalonate kinase deficiency and autoinflammation.
Hager EJ; Gibson KM
N Engl J Med; 2007 Nov; 357(18):1871-2. PubMed ID: 17978300
[No Abstract] [Full Text] [Related]
2. Mevalonate kinase deficiency: a survey of 50 patients.
Bader-Meunier B; Florkin B; Sibilia J; Acquaviva C; Hachulla E; Grateau G; Richer O; Farber CM; Fischbach M; Hentgen V; Jego P; Laroche C; Neven B; Lequerré T; Mathian A; Pellier I; Touitou I; Rabier D; Prieur AM; Cuisset L; Quartier P; ;
Pediatrics; 2011 Jul; 128(1):e152-9. PubMed ID: 21708801
[TBL] [Abstract][Full Text] [Related]
3. Mevalonate kinase deficiency and autoinflammatory disorders.
Haas D; Hoffmann GF
N Engl J Med; 2007 Jun; 356(26):2671-3. PubMed ID: 17596600
[No Abstract] [Full Text] [Related]
4. [Identification of the gene for hyper-IgD syndrome: a model of modern genetics].
Drenth JP; Waterham HR; Kuis W; Houten SM; Frenkel J; Wanders RJ; Poll-The BT; van der Meer JW
Ned Tijdschr Geneeskd; 2000 Apr; 144(17):782-5. PubMed ID: 10800545
[TBL] [Abstract][Full Text] [Related]
5. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Prietsch V; Mayatepek E; Krastel H; Haas D; Zundel D; Waterham HR; Wanders RJ; Gibson KM; Hoffmann GF
Pediatrics; 2003 Feb; 111(2):258-61. PubMed ID: 12563048
[TBL] [Abstract][Full Text] [Related]
6. Molecular mechanisms of amyloidosis.
van der Hilst JC; Simon A; Drenth JP
N Engl J Med; 2003 Nov; 349(19):1872-3; author reply 1872-3. PubMed ID: 14606469
[No Abstract] [Full Text] [Related]
7. 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]
8. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
Nevyjel M; Pontillo A; Calligaris L; Tommasini A; D'Osualdo A; Waterham HR; Granzotto M; Crovella S; Barbi E; Ventura A
Pediatrics; 2007 Feb; 119(2):e523-7. PubMed ID: 17261617
[TBL] [Abstract][Full Text] [Related]
9. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Hinson DD; Rogers ZR; Hoffmann GF; Schachtele M; Fingerhut R; Kohlschutter A; Kelley RI; Gibson KM
Am J Med Genet; 1998 Aug; 78(5):408-12. PubMed ID: 9714005
[TBL] [Abstract][Full Text] [Related]
10. Retinitis pigmentosa in mevalonate kinase deficiency.
Balgobind B; Wittebol-Post D; Frenkel J
J Inherit Metab Dis; 2005; 28(6):1143-5. PubMed ID: 16435210
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Hereditary periodic fever.
Kelley RI; Takada I
N Engl J Med; 2002 May; 346(18):1415-6; author reply 1415-6. PubMed ID: 11987326
[No Abstract] [Full Text] [Related]
13. 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]
14. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome.
Frenkel J; Rijkers GT; Mandey SH; Buurman SW; Houten SM; Wanders RJ; Waterham HR; Kuis W
Arthritis Rheum; 2002 Oct; 46(10):2794-803. PubMed ID: 12384940
[TBL] [Abstract][Full Text] [Related]
15. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
Di Rocco M; Caruso U; Waterham HR; Picco P; Loy A; Wanders RJ
J Inherit Metab Dis; 2001 Jun; 24(3):411-2. PubMed ID: 11486909
[No Abstract] [Full Text] [Related]
16. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
Poll-The BT; Frenkel J; Houten SM; Kuis W; Duran M; de Koning TJ; Dorland L; de Barse MM; Romeijn GJ; Wanders RJ; Waterham HR
J Inherit Metab Dis; 2000 Jun; 23(4):363-6. PubMed ID: 10896295
[No Abstract] [Full Text] [Related]
17. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM; Kuis W; Duran M; de Koning TJ; van Royen-Kerkhof A; Romeijn GJ; Frenkel J; Dorland L; de Barse MM; Huijbers WA; Rijkers GT; Waterham HR; Wanders RJ; Poll-The BT
Nat Genet; 1999 Jun; 22(2):175-7. PubMed ID: 10369261
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
Ammouri W; Cuisset L; Rouaghe S; Rolland MO; Delpech M; Grateau G; Ravet N
Rheumatology (Oxford); 2007 Oct; 46(10):1597-600. PubMed ID: 17804452
[TBL] [Abstract][Full Text] [Related]
20. [Mevalonic aciduria].
Yoshida I
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):305-9. PubMed ID: 9590053
[No Abstract] [Full Text] [Related]
[Next] [New Search]
