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Journal Abstract Search

172 related items for PubMed ID: 6125810

  • 1. Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
    Bartley JA, Miller DK, Hayford JT, McCabe ER.
    Lancet; 1982 Oct 02; 2(8301):733-6. PubMed ID: 6125810
    [No Abstract] [Full Text] [Related]

  • 2. 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 02; 7(5):441-9. PubMed ID: 6249182
    [Abstract] [Full Text] [Related]

  • 3. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
    Bartley JA, Patil S, Davenport S, Goldstein D, Pickens J.
    J Pediatr; 1986 Feb 02; 108(2):189-92. PubMed ID: 3003318
    [Abstract] [Full Text] [Related]

  • 4. [Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
    Malpuech G, Dastugue B, Giraud G, Jouanel P, Vanlieferinghen P, Carla H.
    J Genet Hum; 1989 Jun 02; 37(2):155-62. PubMed ID: 2545811
    [Abstract] [Full Text] [Related]

  • 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 15; 1(8481):585-7. PubMed ID: 2869305
    [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 15; 141(7):744-7. PubMed ID: 3035918
    [Abstract] [Full Text] [Related]

  • 7. Congenital adrenal hypoplasia and glycerol kinase deficiency.
    Oleesky DA, Hakeem V.
    Acta Paediatr Scand; 1989 Nov 15; 78(6):893-5. PubMed ID: 2557720
    [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 15; 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 15; 24(4):243-51. PubMed ID: 6315281
    [Abstract] [Full Text] [Related]

  • 10. Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
    McCabe ER.
    Biochem Med; 1983 Oct 15; 30(2):215-30. PubMed ID: 6316939
    [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 15; 29(3):557-64. PubMed ID: 2837087
    [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 15; 77(4):379-83. PubMed ID: 2891606
    [Abstract] [Full Text] [Related]

  • 13. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
    Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP.
    Am J Hum Genet; 1987 Mar 15; 40(3):212-27. PubMed ID: 2883886
    [Abstract] [Full Text] [Related]

  • 14. Adrenal dysfunction in glycerol kinase deficiency.
    Seltzer WK, Firminger H, Klein J, Pike A, Fennessey P, McCabe ER.
    Biochem Med; 1985 Apr 15; 33(2):189-99. PubMed ID: 2988520
    [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 Apr 15; 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 15; 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 15; 36(1):23-8. PubMed ID: 2159212
    [Abstract] [Full Text] [Related]

  • 18. [Remembering to manage hyperglycerolemia in atypical hypertriglyceridemia].
    Bernard F, Gidenne S, Godreuil C, Ollivier JP.
    Presse Med; 2002 Jul 27; 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 27; 40(11 Pt 1):2099-103. PubMed ID: 7955386
    [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 27; 78(3):222-7. PubMed ID: 2894344
    [Abstract] [Full Text] [Related]

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