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Journal Abstract Search

172 related items for PubMed ID: 6125810

  • 21. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
    Clarke A, Roberts SH, Thomas NS, Whitfield A, Williams J, Harper PS.
    J Med Genet; 1986 Dec; 23(6):501-8. PubMed ID: 3027343
    [Abstract] [Full Text] [Related]

  • 22. 'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
    Goussault Y, Turpin E, Neel D, Dreux C, Chanu B, Bakir R, Rouffy J.
    Clin Chim Acta; 1982 Aug 18; 123(3):269-74. PubMed ID: 6288290
    [Abstract] [Full Text] [Related]

  • 23. Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.
    Hammond J, Howard NJ, Brookwell R, Purvis-Smith S, Wilcken B, Hoogenraad N.
    Lancet; 1985 Jan 05; 1(8419):54. PubMed ID: 2856983
    [No Abstract] [Full Text] [Related]

  • 24. 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 05; 23(6):529-47. PubMed ID: 11032329
    [Abstract] [Full Text] [Related]

  • 25. Glyceroluria in healthy adults, mentally ill adults and children selected for metabolic screening.
    Kohlschütter A, Seitz HJ, Feldmann B, Lehnert W, Langenbeck U.
    Clin Chim Acta; 1991 May 15; 198(3):203-7. PubMed ID: 1889122
    [No Abstract] [Full Text] [Related]

  • 26. 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 15; 31(3):603-16. PubMed ID: 2852474
    [Abstract] [Full Text] [Related]

  • 27. Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
    Kohlschütter A, Willig HP, Schlamp D, Kruse K, McCabe ER, Schäfer HJ, Beckenkamp G, Rohkamm R.
    Eur J Pediatr; 1987 Nov 15; 146(6):575-81. PubMed ID: 2828063
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
    Zaffanello M, Zamboni G, Tonin P, Solero GP, Tatò L.
    J Paediatr Child Health; 2004 Apr 01; 40(4):237-40. PubMed ID: 15009558
    [Abstract] [Full Text] [Related]

  • 30. X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.
    Petersen KE, Bille T, Jacobsen BB, Iversen T.
    Acta Paediatr Scand; 1982 Nov 01; 71(6):947-51. PubMed ID: 6891556
    [Abstract] [Full Text] [Related]

  • 31. [Pseudo-hypertriglyceridemia caused by glycerol kinase deficiency].
    Sanson-Raffin ML, Turpin G, Tzotzas T, Lagarde JP, Goussault Y, Cristini P, de Gennes JL.
    Rev Med Interne; 1989 Nov 01; 10(5):453-6. PubMed ID: 2488489
    [No Abstract] [Full Text] [Related]

  • 32. Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.
    Sehgal A, Stack J.
    Indian J Pediatr; 2005 Jan 01; 72(1):67-9. PubMed ID: 15684452
    [Abstract] [Full Text] [Related]

  • 33. Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
    Saito F, Goto J, Kakinuma H, Nakamura F, Murayama S, Nakano I, Tonomura A.
    Clin Genet; 1986 Jan 01; 29(1):92-3. PubMed ID: 3004790
    [No Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK.
    J Clin Invest; 1989 Jan 01; 83(1):95-9. PubMed ID: 2536049
    [Abstract] [Full Text] [Related]

  • 36. Familial congenital adrenal hypoplasia.
    Uttley WS.
    Arch Dis Child; 1968 Dec 01; 43(232):724-30. PubMed ID: 5702234
    [No Abstract] [Full Text] [Related]

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

  • 38. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.
    Børresen AL, Hellerud C, Møller P, Søvik O, Berg K.
    Clin Genet; 1987 Oct 01; 32(4):254-9. PubMed ID: 2890456
    [Abstract] [Full Text] [Related]

  • 39. Deficiency of glycerol kinase (EC 2.7.1.30).
    Eriksson A, Lindstedt S, Ransnäs L, von Wendt L.
    Clin Chem; 1983 Apr 01; 29(4):718-22. PubMed ID: 6299616
    [Abstract] [Full Text] [Related]

  • 40. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
    Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ.
    Hum Mol Genet; 1997 Oct 01; 6(11):1803-9. PubMed ID: 9302256
    [Abstract] [Full Text] [Related]

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