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Journal Abstract Search

255 related items for PubMed ID: 19179722

  • 1. Biotinidase deficiency with hypertonia as unusual feature.
    Rathi N, Rathi M.
    Indian Pediatr; 2009 Jan; 46(1):65-7. PubMed ID: 19179722
    [Abstract] [Full Text] [Related]

  • 2. Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
    Kardas F, Patiroglu T, Unal E, Chiang SC, Bryceson YT, Kendirci M.
    Pediatr Blood Cancer; 2012 Jul 15; 59(1):191-3. PubMed ID: 22605457
    [Abstract] [Full Text] [Related]

  • 3. A girl with spastic tetraparesis associated with biotinidase deficiency.
    Komur M, Okuyaz C, Ezgu F, Atici A.
    Eur J Paediatr Neurol; 2011 Nov 15; 15(6):551-3. PubMed ID: 21571559
    [Abstract] [Full Text] [Related]

  • 4. Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
    Guliyeva U, Okur I, Dulac O, Khalilov O, Guliyeva S.
    Neuropediatrics; 2018 Dec 15; 49(6):417-418. PubMed ID: 30001564
    [No Abstract] [Full Text] [Related]

  • 5. A case of partial biotinidase deficiency associated with autism.
    Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.
    Child Neuropsychol; 2003 Sep 15; 9(3):184-8. PubMed ID: 13680408
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
    Afroze B, Wasay M.
    J Coll Physicians Surg Pak; 2013 Nov 15; 23(10):823-5. PubMed ID: 24169397
    [Abstract] [Full Text] [Related]

  • 7. Profound biotinidase deficiency in a child with predominantly spinal cord disease.
    Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B.
    J Child Neurol; 2008 Sep 15; 23(9):1043-8. PubMed ID: 18645204
    [Abstract] [Full Text] [Related]

  • 8. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
    Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE.
    Hum Mutat; 2005 Apr 15; 25(4):413. PubMed ID: 15776412
    [Abstract] [Full Text] [Related]

  • 9. Two unusual clinical and radiological presentations of biotinidase deficiency.
    Mc Sweeney N, Grunewald S, Bhate S, Ganesan V, Chong WK, Hemingway C.
    Eur J Paediatr Neurol; 2010 Nov 15; 14(6):535-8. PubMed ID: 20153672
    [Abstract] [Full Text] [Related]

  • 10. Biotinidase deficiency in childhood.
    Venkataraman V, Balaji P, Panigrahi D, Jamal R.
    Neurol India; 2013 Nov 15; 61(4):411-3. PubMed ID: 24005734
    [Abstract] [Full Text] [Related]

  • 11. Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
    Tanzer F, Sancaktar M, Buyukkayhan D.
    J Pediatr Endocrinol Metab; 2009 Dec 15; 22(12):1113-6. PubMed ID: 20333870
    [Abstract] [Full Text] [Related]

  • 12. Facial erythema and onychoschizia.
    Redondo-Mateo J, Urbon-Artero A.
    Arch Dermatol; 2005 Nov 15; 141(11):1457-62. PubMed ID: 16301397
    [No Abstract] [Full Text] [Related]

  • 13. Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
    Joshi S, al-Essa MA, Archibald A, Ozand PT.
    East Mediterr Health J; 1999 Nov 15; 5(6):1213-7. PubMed ID: 11924114
    [Abstract] [Full Text] [Related]

  • 14. Biotinidase deficiency.
    Dahiphale R, Jain S, Agrawal M.
    Indian Pediatr; 2008 Sep 15; 45(9):777-9. PubMed ID: 18820388
    [Abstract] [Full Text] [Related]

  • 15. Biotinidase deficiency: an atypical presentation.
    Jagadeesh S, Suresh B, Seshadri S, Suzuki Y.
    Natl Med J India; 2013 Sep 15; 26(1):29-30. PubMed ID: 24066991
    [Abstract] [Full Text] [Related]

  • 16. [Biotinidase deficiency--a case report].
    Mrugacz M, Bakunowicz-Łazarczyk A.
    Klin Oczna; 2002 Sep 15; 104(3-4):264-5. PubMed ID: 12608316
    [Abstract] [Full Text] [Related]

  • 17. Analysis of mutations causing biotinidase deficiency.
    Pindolia K, Jordan M, Wolf B.
    Hum Mutat; 2010 Sep 15; 31(9):983-91. PubMed ID: 20556795
    [Abstract] [Full Text] [Related]

  • 18. Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
    Hayek W, Dumin Y, Tal G, Zehavi Y, Sakran W, Spiegel R.
    Isr Med Assoc J; 2019 Mar 15; 21(3):219-221. PubMed ID: 30905112
    [No Abstract] [Full Text] [Related]

  • 19. [Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
    Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.
    Med Clin (Barc); 2011 Oct 22; 137(11):500-3. PubMed ID: 21752405
    [Abstract] [Full Text] [Related]

  • 20. Biotinidase deficiency characterized by skin and hair findings.
    Yang Y, Yang JY, Chen XJ.
    Clin Dermatol; 2020 Oct 22; 38(4):477-483. PubMed ID: 32972606
    [Abstract] [Full Text] [Related]

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