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Journal Abstract Search

90 related items for PubMed ID: 7714071

  • 1. 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; 80(4):1079-82. PubMed ID: 7714071
    [No Abstract] [Full Text] [Related]

  • 2. [Adenosine triphosphate: glycerol 3-phosphotransferase deficiency].
    Yoshida I.
    Ryoikibetsu Shokogun Shirizu; 1998 Apr; (18 Pt 1):376-9. PubMed ID: 9590075
    [No Abstract] [Full Text] [Related]

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  • 4. [Glycerol kinase deficiency with debut of symptoms in adult age. Unusual cause of coma, metabolic acidosis, hypoglycemia and hypothermia].
    Fodor E, Hellerud C, Hulting J, Karlson-Stiber C, Abrahamsson L, Nyström T, Andersson DE, Sjöholm A.
    Lakartidningen; 1998 Apr; 107(40):2408-10. PubMed ID: 21140574
    [No Abstract] [Full Text] [Related]

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

  • 6. [Pseudohypertriglyceridemia due to hyperglycerolaemia].
    Raynaud E, Perez-Martin A, Lalande O, Solere M.
    Ann Biol Clin (Paris); 2000 Apr; 58(5):607-9. PubMed ID: 11022104
    [No Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Isolated and contiguous glycerol kinase gene disorders: a review.
    Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT.
    J Inherit Metab Dis; 2000 Sep 17; 23(6):529-47. PubMed ID: 11032329
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.
    Illsinger S, Marquardt I, Lücke T, Hellerud C, Korenke C, Das AM.
    Dev Med Child Neurol; 2007 May 17; 49(5):396-7. PubMed ID: 17489818
    [No Abstract] [Full Text] [Related]

  • 12. 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 17; 29(3):557-64. PubMed ID: 2837087
    [Abstract] [Full Text] [Related]

  • 13. Glyceroluria with adrenocortical insufficiency, developmental delay and early death.
    Søvik O, Jellum E, Madsen B.
    J Inherit Metab Dis; 1988 Mar 17; 11(3):304-5. PubMed ID: 2852736
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [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 02; 47(6):639-42. PubMed ID: 9575126
    [No Abstract] [Full Text] [Related]

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  • 17. Glycerol kinase deficiency and adrenal hypoplasia congenita.
    Clarke RA, Howard N, O'Sullivan WJ, Svirklys LG, Mackinlay AG.
    J Inherit Metab Dis; 1997 Aug 02; 20(4):609. PubMed ID: 9266403
    [No Abstract] [Full Text] [Related]

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  • 19. Mental retardation locus in Xp21 chromosome microdeletion.
    Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS.
    Am J Med Genet; 1993 Jun 01; 46(4):363-8. PubMed ID: 8357005
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 31(3):603-16. PubMed ID: 2852474
    [Abstract] [Full Text] [Related]

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