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Journal Abstract Search

225 related items for PubMed ID: 29359854

  • 1. Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
    Liu Z, Zhao X, Sheng H, Cai Y, Yin X, Chen X, Su L, Lu Z, Zeng C, Li X, Liu L.
    Am J Med Genet A; 2018 Mar; 176(3):589-596. PubMed ID: 29359854
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  • 2. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
    Moatter T, Ahmed S, Majid H, Jafri L, Bilal M, Najumuddin, Faisal, Khan AH.
    J Gene Med; 2024 Jan; 26(1):e3597. PubMed ID: 37751899
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  • 3. Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
    Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.
    Mol Genet Metab; 2014 Jul; 112(3):242-6. PubMed ID: 24797656
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  • 4. Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
    Carvalho NO, Del Castillo DM, Januário JN, Starling ALP, Arantes RR, Norton RC, Viana MB.
    Am J Med Genet A; 2019 Jun; 179(6):978-982. PubMed ID: 30912303
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  • 12. The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
    Torkamandi S, Rezaei S, Mirfakhraie R, Golmohamadi S, Gholami M.
    Mol Biol Rep; 2020 May; 47(5):4021-4027. PubMed ID: 32281057
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  • 13. 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
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  • 14. Mutations in BTD causing biotinidase deficiency.
    Hymes J, Stanley CM, Wolf B.
    Hum Mutat; 2001 Nov; 18(5):375-81. PubMed ID: 11668630
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  • 15. 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
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  • 16. Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
    Tonin R, Caciotti A, Funghini S, la Marca G, Pasquini E, Cayton E, Mooney SD, Guerrini R, Morrone A.
    Clin Chim Acta; 2015 May 20; 445():70-2. PubMed ID: 25795614
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  • 20. Forty-eight novel mutations causing biotinidase deficiency.
    Procter M, Wolf B, Mao R.
    Mol Genet Metab; 2016 Mar 20; 117(3):369-72. PubMed ID: 26810761
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