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Journal Abstract Search

180 related items for PubMed ID: 16025401

  • 1. Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
    Wibmer T, Otto J, Parhofer KG, Otto C.
    Exp Clin Endocrinol Diabetes; 2005 Jul; 113(7):396-403. PubMed ID: 16025401
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(6):529-47. PubMed ID: 11032329
    [Abstract] [Full Text] [Related]

  • 3. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 4. Pseudo-hypertriglyceridaemia or hyperglycerolemia?
    Arrobas-Velilla T, Mondéjar-García R, Gómez-Gerique JA, Cañizares Díaz I, Cruz Mengibar MC, Orive de Diego A, Fabiani-Romero F.
    Clin Investig Arterioscler; 2013 Oct; 25(3):123-6. PubMed ID: 23877006
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  • 5. 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
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  • 6. Pseudo-hypertriglyceridaemia: a measurement artefact due to glycerol kinase deficiency.
    Walmsley TA, Potter HC, George PM, Florkowski CM.
    Postgrad Med J; 2008 Oct; 84(996):552-4. PubMed ID: 19017842
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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
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  • 8. [Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].
    Pantoja-Martínez J, Martínez-Castellano F, Tarazona-Casany I, Buesa-Ibáñez E, Ardid-Encinar M, Esparza-Sánchez MA, Bonet-Arzo J.
    Rev Neurol; 2004 Jun; 44(10):606-9. PubMed ID: 17523119
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  • 10. 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
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  • 12. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
    Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER.
    Hum Mutat; 2007 Mar; 28(3):235-42. PubMed ID: 17089405
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  • 13. Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
    Wikiera B, Jakubiak A, Zimowski J, Noczyńska A, Smigiel R.
    Pediatr Endocrinol Diabetes Metab; 2012 Mar; 18(4):153-7. PubMed ID: 23739620
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  • 14. 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
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  • 15. 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
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  • 17. Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
    Korkut S, Baştuğ O, Raygada M, Hatipoğlu N, Kurtoğlu S, Kendirci M, Lyssikatos C, Stratakis CA.
    J Clin Res Pediatr Endocrinol; 2016 Dec 01; 8(4):468-471. PubMed ID: 27087023
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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
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  • 20. [Hyperglycerolemia, a pseudo-hypertriglyceridemia: a case report].
    Fabiani Romero F, Bermúdez de la Vega JA, González Martin C, Gentil González J, Oribe A, Cruz C.
    An Pediatr (Barc); 2009 Jul 01; 71(1):68-71. PubMed ID: 19423413
    [Abstract] [Full Text] [Related]

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