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5. Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. Dunger DB; Davies KE; Pembrey M; Lake B; Pearson P; Williams D; Whitfield A; Dillon MJ Lancet; 1986 Mar; 1(8481):585-7. PubMed ID: 2869305 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Wise JE; Matalon R; Morgan AM; McCabe ER Am J Dis Child; 1987 Jul; 141(7):744-7. PubMed ID: 3035918 [TBL] [Abstract][Full Text] [Related]
7. Congenital adrenal hypoplasia and glycerol kinase deficiency. Oleesky DA; Hakeem V Acta Paediatr Scand; 1989 Nov; 78(6):893-5. PubMed ID: 2557720 [TBL] [Abstract][Full Text] [Related]
8. [Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?]. Yoshimoto M; Takayanagi T; Nagayoshi T; Baba T; Tsuji Y No To Hattatsu; 1984 Jul; 16(4):328-9. PubMed ID: 6091705 [No Abstract] [Full Text] [Related]
9. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Renier WO; Nabben FA; Hustinx TW; Veerkamp JH; Otten BJ; Ter Laak HJ; Ter Haar BG; Gabreëls FJ Clin Genet; 1983 Oct; 24(4):243-51. PubMed ID: 6315281 [TBL] [Abstract][Full Text] [Related]
10. Human glycerol kinase deficiency: an inborn error of compartmental metabolism. McCabe ER Biochem Med; 1983 Oct; 30(2):215-30. PubMed ID: 6316939 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. Marlhens F; Chelly J; Kaplan JC; Lefrancois D; Harpey JP; Dutrillaux B Hum Genet; 1987 Dec; 77(4):379-83. PubMed ID: 2891606 [TBL] [Abstract][Full Text] [Related]
15. Glyceroluria with adrenocortical insufficiency, developmental delay and early death. Søvik O; Jellum E; Madsen B J Inherit Metab Dis; 1988; 11(3):304-5. PubMed ID: 2852736 [No Abstract] [Full Text] [Related]
16. A case with the infantile type of glycerol kinase deficiency. Kakinuma H; Nakamura F; Murayama S; Goto J; Nakano I; Saito F; Ohtake A; Takayanagi M; Nakajima H Acta Paediatr Jpn; 1987 Jun; 29(3):465-8. PubMed ID: 2849856 [No Abstract] [Full Text] [Related]
17. 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]
18. [Remembering to manage hyperglycerolemia in atypical hypertriglyceridemia]. Bernard F; Gidenne S; Godreuil C; Ollivier JP Presse Med; 2002 Jul; 31(25):1172. PubMed ID: 12192729 [No Abstract] [Full Text] [Related]
19. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. Cole DE; Clarke LA; Riddell DC; Samson KA; Seltzer WK; Salisbury S Clin Chem; 1994 Nov; 40(11 Pt 1):2099-103. PubMed ID: 7955386 [TBL] [Abstract][Full Text] [Related]
20. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Chelly J; Marlhens F; Dutrillaux B; Van Ommen GJ; Lambert M; Haioun B; Boissinot G; Fardeau M; Kaplan JC Hum Genet; 1988 Mar; 78(3):222-7. PubMed ID: 2894344 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]