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Journal Abstract Search

319 related items for PubMed ID: 23739620

  • 1. Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
    Wikiera B, Jakubiak A, Zimowski J, Noczyńska A, Smigiel R.
    Pediatr Endocrinol Diabetes Metab; 2012; 18(4):153-7. PubMed ID: 23739620
    [Abstract] [Full Text] [Related]

  • 2. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
    Heide S, Afenjar A, Edery P, Sanlaville D, Keren B, Rouen A, Lavillaureix A, Hyon C, Doummar D, Siffroi JP, Chantot-Bastaraud S.
    Eur J Med Genet; 2015; 58(6-7):341-5. PubMed ID: 25917374
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  • 3. The diagnostic difficulties of complex glycerol kinase deficiency.
    Ramanjam V, Delport S, Wilmshurst JM.
    J Child Neurol; 2010 Oct; 25(10):1269-71. PubMed ID: 20110216
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  • 4. [Congenital adrenal hypoplasia as the first manifestation of a contiguous deletion of genes in Xp21].
    García García E, Martínez Ortega AJ, Fernández García R, Madruga Garrido M.
    Med Clin (Barc); 2013 Jun 18; 140(12):564-5. PubMed ID: 23177307
    [No Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. A neonate with contiguous deletion syndrome in XP21.
    Sevim U, Fatma D, Ihsan E, Gulay C, Nevin B.
    J Pediatr Endocrinol Metab; 2011 Oct 24; 24(11-12):1095-8. PubMed ID: 22308874
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  • 7. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
    Pizza A, Picillo E, Onore ME, Scutifero M, Passamano L, Nigro V, Politano L.
    Acta Myol; 2023 Oct 24; 42(1):24-30. PubMed ID: 37091526
    [Abstract] [Full Text] [Related]

  • 8. [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; 2023 Oct 24; 44(10):606-9. PubMed ID: 17523119
    [Abstract] [Full Text] [Related]

  • 9. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 24; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 10. 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 24; 21(10):1085-7. PubMed ID: 21981102
    [No Abstract] [Full Text] [Related]

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  • 13. Complex glycerol kinase deficiency - long-term follow-up of two patients.
    Wikiera B, Jakubiak A, Łaczmanska I, Noczyńska A, Śmigiel R.
    Pediatr Endocrinol Diabetes Metab; 2021 Oct 24; 27(3):227-231. PubMed ID: 34743506
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  • 14. 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 24; 23(6):529-47. PubMed ID: 11032329
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  • 16. Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
    Montoya-Williams D, Mowitz M.
    Pediatrics; 2017 Jul 24; 140(1):. PubMed ID: 28759390
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  • 19. 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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