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Journal Abstract Search

131 related items for PubMed ID: 15303806

  • 1. 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; 93(7):911-21. PubMed ID: 15303806
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
    Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT.
    J Med Genet; 1998 Aug; 35(8):650-6. PubMed ID: 9719371
    [Abstract] [Full Text] [Related]

  • 4. Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
    Kuwada N, Nagano K, MacLennan N, Havens J, Kumar M, Dipple KM, McCabe ER.
    Biochem Biophys Res Commun; 2005 Sep 16; 335(1):247-55. PubMed ID: 16105550
    [Abstract] [Full Text] [Related]

  • 5. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 16; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 6. Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
    MacLennan NK, Rahib L, Shin C, Fang Z, Horvath S, Dean J, Liao JC, McCabe ER, Dipple KM.
    Hum Mol Genet; 2006 Feb 01; 15(3):405-15. PubMed ID: 16368706
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 23(6):529-47. PubMed ID: 11032329
    [Abstract] [Full Text] [Related]

  • 8. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
    Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA.
    J Med Genet; 2000 Jun 01; 37(6):434-41. PubMed ID: 10851254
    [Abstract] [Full Text] [Related]

  • 9. [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; 2000 Jun 01; 107(40):2408-10. PubMed ID: 21140574
    [No Abstract] [Full Text] [Related]

  • 10. 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 01; 113(7):396-403. PubMed ID: 16025401
    [Abstract] [Full Text] [Related]

  • 11. [Adenosine triphosphate: glycerol 3-phosphotransferase deficiency].
    Yoshida I.
    Ryoikibetsu Shokogun Shirizu; 1998 Jul 01; (18 Pt 1):376-9. PubMed ID: 9590075
    [No Abstract] [Full Text] [Related]

  • 12. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 13. [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; 2009 Aug 01; 44(10):606-9. PubMed ID: 17523119
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 49(5):396-7. PubMed ID: 17489818
    [No Abstract] [Full Text] [Related]

  • 15. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.
    J Dermatol Sci; 2009 Oct 01; 56(1):9-18. PubMed ID: 19665875
    [Abstract] [Full Text] [Related]

  • 16. Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
    Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM.
    Pediatr Res; 2006 Apr 01; 59(4 Pt 1):590-2. PubMed ID: 16549535
    [Abstract] [Full Text] [Related]

  • 17. Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
    Hellerud C, Burlina A, Gabelli C, Ellis JR, Nyholm PG, Lindstedt S.
    Clin Chem Lab Med; 2003 Jan 01; 41(1):46-55. PubMed ID: 12636049
    [Abstract] [Full Text] [Related]

  • 18. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
    Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T.
    Brain Dev; 2008 Jan 01; 30(1):59-67. PubMed ID: 17597323
    [Abstract] [Full Text] [Related]

  • 19. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
    Gaudet D, Arsenault S, Pérusse L, Vohl MC, St-Pierre J, Bergeron J, Després JP, Dewar K, Daly MJ, Hudson T, Rioux JD.
    Am J Hum Genet; 2000 May 01; 66(5):1558-68. PubMed ID: 10736265
    [Abstract] [Full Text] [Related]

  • 20. Mutations and phenotype in isolated glycerol kinase deficiency.
    Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP.
    Am J Hum Genet; 1996 Jun 01; 58(6):1205-11. PubMed ID: 8651297
    [Abstract] [Full Text] [Related]

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