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.
4. 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]
5. 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]
6. Autofluorescence and visual field loss in sector retinitis pigmentosa. Meyerle CB; Fisher YL; Spaide RF Retina; 2006 Feb; 26(2):248-50. PubMed ID: 16467695 [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. 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]
9. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Siemiatkowska AM; van den Born LI; van Hagen PM; Stoffels M; Neveling K; Henkes A; Kipping-Geertsema M; Hoefsloot LH; Hoyng CB; Simon A; den Hollander AI; Cremers FPM; Collin RWJ Ophthalmology; 2013 Dec; 120(12):2697-2705. PubMed ID: 24084495 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Vision change after sheet transplant of fetal retina with retinal pigment epithelium to a patient with retinitis pigmentosa. Radtke ND; Aramant RB; Seiler MJ; Petry HM; Pidwell D Arch Ophthalmol; 2004 Aug; 122(8):1159-65. PubMed ID: 15302656 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Central serous chorioretinopathy associated with retinitis pigmentosa. Dorenboim Y; Rehany U; Rumelt S Graefes Arch Clin Exp Ophthalmol; 2004 Apr; 242(4):346-9. PubMed ID: 14997320 [TBL] [Abstract][Full Text] [Related]
14. Laboratory screening for metabolic eye disease: a review. Winder AF J R Soc Med; 1981 Aug; 74(8):610-5. PubMed ID: 7288799 [No Abstract] [Full Text] [Related]
16. Unilateral retinitis pigmentosa with amblyopia in the fellow eye. Chen H; Wu D; Huang S; Jiang F Graefes Arch Clin Exp Ophthalmol; 2006 Dec; 244(12):1701-4. PubMed ID: 16598464 [TBL] [Abstract][Full Text] [Related]
17. A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole. Enani L; Kozak I; Abdelkader E Middle East Afr J Ophthalmol; 2017; 24(2):113-115. PubMed ID: 28936059 [TBL] [Abstract][Full Text] [Related]
18. Normal interaction of plasma retinol-binding protein from retinitis pigmentosa with bovine pigment epithelium. Maraini G; Gozzoli F Invest Ophthalmol; 1976 Dec; 15(12):1020-2. PubMed ID: 1033169 [TBL] [Abstract][Full Text] [Related]
19. 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]