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Journal Abstract Search

132 related items for PubMed ID: 30905112

  • 1. 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; 21(3):219-221. PubMed ID: 30905112
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  • 2. 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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  • 3. 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; 22(12):1113-6. PubMed ID: 20333870
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  • 4. [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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  • 9. [Biotinidase deficiency--a case report].
    Mrugacz M, Bakunowicz-Łazarczyk A.
    Klin Oczna; 2002 Oct 22; 104(3-4):264-5. PubMed ID: 12608316
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  • 12. [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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  • 13. A girl with spastic tetraparesis associated with biotinidase deficiency.
    Komur M, Okuyaz C, Ezgu F, Atici A.
    Eur J Paediatr Neurol; 2011 Nov 22; 15(6):551-3. PubMed ID: 21571559
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  • 16. Biotinidase deficiency and our champagne legacy.
    Wolf B.
    Gene; 2016 Sep 10; 589(2):142-50. PubMed ID: 26456103
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