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Journal Abstract Search

242 related items for PubMed ID: 12608322

  • 1. [Biotinidase deficiency and eye].
    Mrugacz M, Bakunowicz-Łazarczyk A, Sredzińska-Kita D.
    Klin Oczna; 2002; 104(3-4):293-4. PubMed ID: 12608322
    [Abstract] [Full Text] [Related]

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

  • 3. Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
    Afroze B, Wasay M.
    J Coll Physicians Surg Pak; 2013 Nov; 23(10):823-5. PubMed ID: 24169397
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  • 4. 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
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  • 5. Biotinidase deficiency and our champagne legacy.
    Wolf B.
    Gene; 2016 Sep 10; 589(2):142-50. PubMed ID: 26456103
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  • 6. Biotinidase deficiency.
    Dahiphale R, Jain S, Agrawal M.
    Indian Pediatr; 2008 Sep 10; 45(9):777-9. PubMed ID: 18820388
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  • 8. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
    Wolf B.
    Genet Med; 2012 Jun 10; 14(6):565-75. PubMed ID: 22241090
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  • 10. 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 10; 25(4):413. PubMed ID: 15776412
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  • 11. [Biotinidase deficiency: the two faces of metabolic screening].
    Pintos-Morell G.
    Med Clin (Barc); 2011 Oct 22; 137(11):497-9. PubMed ID: 21764085
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  • 13. Long-term follow-up of hearing loss in biotinidase deficiency.
    Welling DB.
    J Child Neurol; 2007 Aug 22; 22(8):1055. PubMed ID: 17761663
    [No Abstract] [Full Text] [Related]

  • 14. 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 22; 14(6):535-8. PubMed ID: 20153672
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  • 19. [Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].
    Yang YL, Yamaguchi S, Tagami Y, Zhang YH, Xiong H, Hasegawa Y, Kimura M, Hanai J, Fujita K, Qian N, He XJ, Wu Y, Bao XH, Qin J, Wu X.
    Zhonghua Er Ke Za Zhi; 2003 Apr 22; 41(4):249-51. PubMed ID: 14754524
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  • 20. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.
    Liu S, Zhang Y, Deng Z, He H, Zheng X, Hong Q, Luo X.
    Int J Mol Sci; 2023 Jun 16; 24(12):. PubMed ID: 37373384
    [Abstract] [Full Text] [Related]

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