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29. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Davies KE; Patterson MN; Kenwrick SJ; Bell MV; Sloan HR; Westman JA; Elsas LJ; Mahan J Am J Med Genet; 1988 Mar; 29(3):557-64. PubMed ID: 2837087 [TBL] [Abstract][Full Text] [Related]
31. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Pillers DA; Weleber RG; Powell BR; Hanna CE; Magenis RE; Buist NR Am J Med Genet; 1990 May; 36(1):23-8. PubMed ID: 2159212 [TBL] [Abstract][Full Text] [Related]
32. 1-Thioglycerol: inhibitor of glycerol kinase activity in vitro and in situ. Seltzer WK; Dhariwal G; Mckelvey HA; McCabe ER Life Sci; 1986 Oct; 39(16):1417-24. PubMed ID: 3022087 [TBL] [Abstract][Full Text] [Related]
33. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Matsumoto T; Kondoh T; Yoshimoto M; Fujieda K; Matsuura N; Matsuda I; Miike T; Yano K; Okuno A; Aoki Y Am J Med Genet; 1988 Nov; 31(3):603-16. PubMed ID: 2852474 [TBL] [Abstract][Full Text] [Related]
34. [Glycerol kinase deficiency with debut of symptoms in adult age. Unusual cause of coma, metabolic acidosis, hypoglycemia and hypothermia]. Fodor E; Hellerud C; Hulting J; Karlson-Stiber C; Abrahamsson L; Nyström T; Andersson DE; Sjöholm A Lakartidningen; 2010 Oct 6-12; 107(40):2408-10. PubMed ID: 21140574 [No Abstract] [Full Text] [Related]
35. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Clarke A; Roberts SH; Thomas NS; Whitfield A; Williams J; Harper PS J Med Genet; 1986 Dec; 23(6):501-8. PubMed ID: 3027343 [TBL] [Abstract][Full Text] [Related]
36. Pseudo-pseudohypertriglyceridemia: a case of increased free glycerol without evidence for glycerol kinase deficiency. Nauck M; Winkler K; Siekmeier R; Marangos N; Richter B; März W; Wieland H Clin Chem; 1995 Apr; 41(4):619-20. PubMed ID: 7720256 [TBL] [Abstract][Full Text] [Related]
37. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. McCabe ER; Towbin J; Chamberlain J; Baumbach L; Witkowski J; van Ommen GJ; Koenig M; Kunkel LM; Seltzer WK J Clin Invest; 1989 Jan; 83(1):95-9. PubMed ID: 2536049 [TBL] [Abstract][Full Text] [Related]
38. Pseudo-hypertriglyceridaemia or hyperglycerolemia? Arrobas-Velilla T; Mondéjar-García R; Gómez-Gerique JA; Cañizares Díaz I; Cruz Mengibar MC; Orive de Diego A; Fabiani-Romero F Clin Investig Arterioscler; 2013; 25(3):123-6. PubMed ID: 23877006 [TBL] [Abstract][Full Text] [Related]
39. Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia. Wibmer T; Otto J; Parhofer KG; Otto C Exp Clin Endocrinol Diabetes; 2005 Jul; 113(7):396-403. PubMed ID: 16025401 [TBL] [Abstract][Full Text] [Related]
40. [Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]. Casado de Frías E; Ruibal Francisco JL; Bueno Lozano G; Pinel Simón G; Reverte Blanc F; Benítez Ortiz J An Esp Pediatr; 1997 Dec; 47(6):639-42. PubMed ID: 9575126 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]