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Journal Abstract Search

398 related items for PubMed ID: 11924114

  • 1. 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; 5(6):1213-7. PubMed ID: 11924114
    [Abstract] [Full Text] [Related]

  • 2. 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; 14(6):535-8. PubMed ID: 20153672
    [Abstract] [Full Text] [Related]

  • 3. Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
    Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.
    Mol Genet Metab; 2015 Nov; 116(3):146-51. PubMed ID: 26361991
    [Abstract] [Full Text] [Related]

  • 4. Biotinidase deficiency.
    Dahiphale R, Jain S, Agrawal M.
    Indian Pediatr; 2008 Sep; 45(9):777-9. PubMed ID: 18820388
    [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; 9(3):184-8. PubMed ID: 13680408
    [Abstract] [Full Text] [Related]

  • 6. Biotinidase deficiency: initial clinical features and rapid diagnosis.
    Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT.
    Ann Neurol; 1985 Nov; 18(5):614-7. PubMed ID: 4073853
    [Abstract] [Full Text] [Related]

  • 7. 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; 25(4):413. PubMed ID: 15776412
    [Abstract] [Full Text] [Related]

  • 8. [Biotinidase deficiency. Progressive encephalopathy curable with biotin].
    Héron B, Gautier A, Dulac O, Ponsot G.
    Arch Fr Pediatr; 1993 Dec; 50(10):875-8. PubMed ID: 8053766
    [Abstract] [Full Text] [Related]

  • 9. Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
    Milánkovics I, Kámory E, Csókay B, Fodor F, Somogyi C, Schuler A.
    Mol Genet Metab; 2007 Mar; 90(3):345-8. PubMed ID: 17185019
    [Abstract] [Full Text] [Related]

  • 10. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
    Coşkun T, Tokatli A, Ozalp I.
    Turk J Pediatr; 1994 Mar; 36(4):267-78. PubMed ID: 7825232
    [Abstract] [Full Text] [Related]

  • 11. [The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening].
    Bay LB, de Pinho S, Eiroa HD, Otegui I, Rodríguez R.
    Arch Argent Pediatr; 2010 Feb; 108(1):e13-6. PubMed ID: 20204226
    [Abstract] [Full Text] [Related]

  • 12. Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
    Bousounis DP, Camfield PR, Wolf B.
    Neuropediatrics; 1993 Aug; 24(4):214-7. PubMed ID: 8232780
    [Abstract] [Full Text] [Related]

  • 13. Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
    Thodi G, Molou E, Georgiou V, Loukas YL, Dotsikas Y, Biti S, Papadopoulos K, Konstantinou D, Antoniadi M, Doulgerakis E.
    J Hum Genet; 2011 Dec; 56(12):861-5. PubMed ID: 22011816
    [Abstract] [Full Text] [Related]

  • 14. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
    Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.
    Nat Genet; 1995 Sep; 11(1):96-8. PubMed ID: 7550325
    [Abstract] [Full Text] [Related]

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  • 16. 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; 23(9):1043-8. PubMed ID: 18645204
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  • 18. Biotinidase deficiency in childhood.
    Venkataraman V, Balaji P, Panigrahi D, Jamal R.
    Neurol India; 2013 Sep; 61(4):411-3. PubMed ID: 24005734
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  • 20. [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]

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