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Journal Abstract Search

139 related items for PubMed ID: 34743506

  • 21. A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
    Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE.
    Clin Chem; 2006 Oct; 52(10):1864-70. PubMed ID: 16887896
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  • 22. Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    Van Obbergh LJ, Corteel J, Papadopoulos J, Aunac S.
    Paediatr Anaesth; 2011 Oct; 21(10):1085-7. PubMed ID: 21981102
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  • 23. 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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  • 24. Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
    Seltzer WK, Angelini C, Dhariwal G, Ringel SP, McCabe ER.
    Muscle Nerve; 1989 Apr 17; 12(4):307-13. PubMed ID: 2549414
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  • 25. 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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  • 33. DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
    Towbin JA, Chamberlain JS, Wu DR, Pillers DA, Seltzer WK, McCabe ER.
    Genomics; 1990 Jul 01; 7(3):442-4. PubMed ID: 2163974
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  • 36. 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
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  • 37. 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 01; 23(6):501-8. PubMed ID: 3027343
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  • 38. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
    Worley KC, Ellison KA, Zhang YH, Wang DF, Mason J, Roth EJ, Adams V, Fogt DD, Zhu XM, Towbin JA.
    Genomics; 1993 May 01; 16(2):407-16. PubMed ID: 8314578
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  • 39. A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.
    Romero NB, Récan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC.
    Neuromuscul Disord; 1997 Dec 01; 7(8):499-504. PubMed ID: 9447607
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  • 40. Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
    McCabe ER, Towbin JA, van den Engh G, Trask BJ.
    Am J Hum Genet; 1992 Dec 01; 51(6):1277-85. PubMed ID: 1463011
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