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Journal Abstract Search

137 related items for PubMed ID: 2988829

  • 1. Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.
    Wieringa B, Hustinx T, Scheres J, Renier W, ter Haar B.
    Clin Genet; 1985 May; 27(5):522-3. PubMed ID: 2988829
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  • 2. Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
    Saito F, Goto J, Kakinuma H, Nakamura F, Murayama S, Nakano I, Tonomura A.
    Clin Genet; 1986 Jan; 29(1):92-3. PubMed ID: 3004790
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  • 3. Congenital adrenal hypoplasia and glycerol kinase deficiency.
    Oleesky DA, Hakeem V.
    Acta Paediatr Scand; 1989 Nov; 78(6):893-5. PubMed ID: 2557720
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  • 4. 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; 108(2):189-92. PubMed ID: 3003318
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  • 6. 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
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  • 8. [Glycerol kinase deficiency].
    Matsumoto T, Niikawa N.
    Tanpakushitsu Kakusan Koso; 1988 Apr 15; 33(5):678-81. PubMed ID: 2855951
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  • 10. 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
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  • 11. 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
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  • 18. [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 15; 47(6):639-42. PubMed ID: 9575126
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  • 19. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
    Darras BT, Francke U.
    Am J Hum Genet; 1988 Aug 15; 43(2):126-30. PubMed ID: 2840818
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  • 20. Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies.
    Yoshimoto M, Baba T, Fukuda S, Matsumoto T, Hayashi S, Niikawa N, Matsuda I, Tsuji Y.
    Acta Paediatr Jpn; 1988 Oct 15; 30(5):615-20. PubMed ID: 2849860
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