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Journal Abstract Search

139 related items for PubMed ID: 34743506

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  • 3. A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
    Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O, Jasinge E, Mettananda S.
    BMC Endocr Disord; 2021 Oct 24; 21(1):214. PubMed ID: 34689766
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  • 9. [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; 2021 Oct 24; 44(10):606-9. PubMed ID: 17523119
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  • 11. Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
    Rossell B, Godart J, Petyt C, Veyckemans F.
    A A Pract; 2020 Aug 24; 14(10):e01294. PubMed ID: 32845106
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  • 12. 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 24; 40(11 Pt 1):2099-103. PubMed ID: 7955386
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  • 16. Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
    Pillers DA, Seltzer WK, Powell BR, Ray PN, Tremblay F, La Roche GR, Lewis RA, McCabe ER, Eriksson AW, Weleber RG.
    Arch Ophthalmol; 1993 Nov 24; 111(11):1558-63. PubMed ID: 8240114
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  • 18. The diagnostic difficulties of complex glycerol kinase deficiency.
    Ramanjam V, Delport S, Wilmshurst JM.
    J Child Neurol; 2010 Oct 24; 25(10):1269-71. PubMed ID: 20110216
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  • 20. Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
    Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG.
    Horm Res Paediatr; 2012 Oct 24; 77(2):100-7. PubMed ID: 22456342
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