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Journal Abstract Search

155 related items for PubMed ID: 11555931

  • 1. [Glycerol kinase deficiency with dystrophinopathy].
    Nakamura A, Takeda S.
    Ryoikibetsu Shokogun Shirizu; 2001; (35):28-30. PubMed ID: 11555931
    [No Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. [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; 37(2):155-62. PubMed ID: 2545811
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
    Worley KC, Lindsay EA, Bailey W, Wise J, McCabe ER, Baldini A.
    Am J Med Genet; 1995 Jul 17; 57(4):615-9. PubMed ID: 7573140
    [Abstract] [Full Text] [Related]

  • 6. Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome.
    Ma HW, Jiang J, Wang YP, Wang ZC, Chen LY, Masafumi M.
    Chin Med J (Engl); 2004 May 17; 117(5):789-91. PubMed ID: 15161559
    [No Abstract] [Full Text] [Related]

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  • 9. 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 17; 40(11 Pt 1):2099-103. PubMed ID: 7955386
    [Abstract] [Full Text] [Related]

  • 10. Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
    Pillers DA, Seltzer WK, Powell BR, Ray PN, Tremblay F, La Roche GR, Lewis RA, McCabe ER, Eriksson AW, Weleber RG.
    Arch Ophthalmol; 1993 Nov 17; 111(11):1558-63. PubMed ID: 8240114
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  • 13. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 17; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 14. [Glycerol kinase deficiency].
    Matsumoto T, Niikawa N.
    Tanpakushitsu Kakusan Koso; 1988 Apr 17; 33(5):678-81. PubMed ID: 2855951
    [No Abstract] [Full Text] [Related]

  • 15. 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 17; 29(3):465-8. PubMed ID: 2849856
    [No Abstract] [Full Text] [Related]

  • 16. Adrenal crisis in the newborn: details leading to the correct diagnosis.
    Vogiatzi MG, Gunn SK, Scheuerle AE, McCabe ER, Copeland KC.
    J Clin Endocrinol Metab; 1995 Apr 17; 80(4):1079-82. PubMed ID: 7714071
    [No Abstract] [Full Text] [Related]

  • 17. Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
    Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S.
    Acta Paediatr; 2004 Jul 17; 93(7):911-21. PubMed ID: 15303806
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  • 19. Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
    Sueyoshi F, Abe Y, Katayama I, Baba T, Yoshimoto M.
    Dermatology; 1999 Jul 17; 198(1):98-9. PubMed ID: 10026415
    [No Abstract] [Full Text] [Related]

  • 20. Impact of molecular genetics on clinical neurology.
    Rowland LP.
    Adv Neurol; 1988 Jul 17; 48():1-15. PubMed ID: 3275438
    [No Abstract] [Full Text] [Related]

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