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7. Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation. Sjarif DR; Hellerud C; van Amstel JK; Kleijer WJ; Sperl W; Lacombe D; Sass JO; Beemer FA; Duran M; Poll-The BT Eur J Hum Genet; 2004 Jun; 12(6):424-32. PubMed ID: 15026783 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Bartley JA; Miller DK; Hayford JT; McCabe ER Lancet; 1982 Oct; 2(8301):733-6. PubMed ID: 6125810 [No Abstract] [Full Text] [Related]
11. 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]
12. Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Guggenheim MA; McCabe ER; Roig M; Goodman SI; Lum GM; Bullen WW; Ringel SP Ann Neurol; 1980 May; 7(5):441-9. PubMed ID: 6249182 [TBL] [Abstract][Full Text] [Related]
13. 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]
16. Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics. Seltzer WK; McCabe ER Mol Cell Biochem; 1984 Apr; 62(1):43-50. PubMed ID: 6330523 [TBL] [Abstract][Full Text] [Related]
17. [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]
18. Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects. Hellerud C; Burlina A; Gabelli C; Ellis JR; Nyholm PG; Lindstedt S Clin Chem Lab Med; 2003 Jan; 41(1):46-55. PubMed ID: 12636049 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]