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Journal Abstract Search

135 related items for PubMed ID: 19017842

  • 21. 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; 58(6):1205-11. PubMed ID: 8651297
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  • 22. [Pseudohypertriglyceridemia in glycerokinase deficiency].
    Wirth A, Heuck CC, Bieger W, Schlierf G.
    Dtsch Med Wochenschr; 1985 May 24; 110(21):843-7. PubMed ID: 2986935
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  • 23. 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 24; 117(5):789-91. PubMed ID: 15161559
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  • 26. [Glycerol kinase deficiency].
    Matsumoto T, Niikawa N.
    Tanpakushitsu Kakusan Koso; 1988 Apr 24; 33(5):678-81. PubMed ID: 2855951
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  • 28. Commentary on Glycerol Kinase Deficiency with Increased Triglycerides and Weight Gain: Pseudo or Real?
    Remaley AT.
    Clin Chem; 2024 May 02; 70(5):707-708. PubMed ID: 38692655
    [No Abstract] [Full Text] [Related]

  • 29. Pseudo-pseudohypertriglyceridemia: a case of increased free glycerol without evidence for glycerol kinase deficiency.
    Nauck M, Winkler K, Siekmeier R, Marangos N, Richter B, März W, Wieland H.
    Clin Chem; 1995 Apr 02; 41(4):619-20. PubMed ID: 7720256
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  • 32. A neonate with contiguous deletion syndrome in XP21.
    Sevim U, Fatma D, Ihsan E, Gulay C, Nevin B.
    J Pediatr Endocrinol Metab; 2011 Apr 02; 24(11-12):1095-8. PubMed ID: 22308874
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  • 33. Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.
    Balducci R, Municchi G, Toscano V, Mangiantini A, Sabatini R, Caiola S, Tedeschi B, Orlandi L, Boscherini B.
    Clin Endocrinol (Oxf); 1995 Apr 02; 42(4):437-9. PubMed ID: 7750200
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  • 34. [Pseudohypertriglyceridemia due to hyperglycerolemia caused by glycerol kinase deficiency].
    Chanu B, Bakir R, Goussault Y, Neel D, Turpin E, Dreux C, Rouffy J.
    Nouv Presse Med; 1982 Apr 24; 11(19):1498-9. PubMed ID: 6281724
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  • 37. Commentary on Glycerol Kinase Deficiency with Increased Triglycerides and Weight Gain: Pseudo or Real?
    Florkowski CM.
    Clin Chem; 2024 May 02; 70(5):706-707. PubMed ID: 38692656
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  • 38. Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
    Guggenheim MA, McCabe ER, Roig M, Goodman SI, Lum GM, Bullen WW, Ringel SP.
    Ann Neurol; 1980 May 02; 7(5):441-9. PubMed ID: 6249182
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  • 39. 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 02; 35(8):650-6. PubMed ID: 9719371
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  • 40. Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia.
    Fu X, Williamson CP, Bosfield K.
    J Mass Spectrom Adv Clin Lab; 2024 Apr 02; 32():47-49. PubMed ID: 38419979
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