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Journal Abstract Search

201 related items for PubMed ID: 32972606

  • 21. Mutations in BTD gene causing biotinidase deficiency: a regional report.
    Kasapkara ÇS, Akar M, Özbek MN, Tüzün H, Aldudak B, Baran RT, Tanyalçın T.
    J Pediatr Endocrinol Metab; 2015 Mar; 28(3-4):421-4. PubMed ID: 25423671
    [Abstract] [Full Text] [Related]

  • 22. Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
    Forny P, Wicht A, Rüfenacht V, Cremonesi A, Häberle J.
    J Inherit Metab Dis; 2022 May; 45(3):605-620. PubMed ID: 35195902
    [Abstract] [Full Text] [Related]

  • 23. [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]

  • 24. 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 22; 179(6):978-982. PubMed ID: 30912303
    [Abstract] [Full Text] [Related]

  • 25. Analysis of mutations causing biotinidase deficiency.
    Pindolia K, Jordan M, Wolf B.
    Hum Mutat; 2010 Sep 22; 31(9):983-91. PubMed ID: 20556795
    [Abstract] [Full Text] [Related]

  • 26. 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 22; 23(9):1043-8. PubMed ID: 18645204
    [Abstract] [Full Text] [Related]

  • 27. Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
    Battini R, Olivieri G, Milone R, Mazio F, Scalise R, Verdolotti T, Primiano G, Genovese O, Mercuri E, Servidei S.
    Brain Dev; 2020 Jun 22; 42(6):457-461. PubMed ID: 32209270
    [Abstract] [Full Text] [Related]

  • 28. Biotinidase deficiency.
    Dahiphale R, Jain S, Agrawal M.
    Indian Pediatr; 2008 Sep 22; 45(9):777-9. PubMed ID: 18820388
    [Abstract] [Full Text] [Related]

  • 29. Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
    Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, Ceylaner S.
    J Pediatr Endocrinol Metab; 2018 Mar 28; 31(3):339-343. PubMed ID: 29353266
    [Abstract] [Full Text] [Related]

  • 30. High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
    Thodi G, Schulpis KH, Molou E, Georgiou V, Loukas YL, Dotsikas Y, Papadopoulos K, Biti S.
    Gene; 2013 Jul 25; 524(2):361-2. PubMed ID: 23644139
    [Abstract] [Full Text] [Related]

  • 31. 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 25; 116(3):146-51. PubMed ID: 26361991
    [Abstract] [Full Text] [Related]

  • 32. 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 25; 56(12):861-5. PubMed ID: 22011816
    [Abstract] [Full Text] [Related]

  • 33. Biotinidase deficiency: an atypical presentation.
    Jagadeesh S, Suresh B, Seshadri S, Suzuki Y.
    Natl Med J India; 2013 Dec 25; 26(1):29-30. PubMed ID: 24066991
    [Abstract] [Full Text] [Related]

  • 34. [Optic neuropathy in biotinidase deficiency].
    Puertas Bordallo D, Martín Reyes C, Ruiz-Falcó Rojas ML, Duat Rodríguez A, Valls Ferrán MI.
    Arch Soc Esp Oftalmol; 2004 Aug 25; 79(8):393-6. PubMed ID: 15306966
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  • 35. Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
    Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F, Coker M.
    J Pediatr Endocrinol Metab; 2018 Aug 28; 31(8):917-926. PubMed ID: 29995633
    [Abstract] [Full Text] [Related]

  • 36. Forty-eight novel mutations causing biotinidase deficiency.
    Procter M, Wolf B, Mao R.
    Mol Genet Metab; 2016 Mar 28; 117(3):369-72. PubMed ID: 26810761
    [Abstract] [Full Text] [Related]

  • 37. BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
    Oz O, Karaca M, Atas N, Gonel A, Ercan M.
    J Coll Physicians Surg Pak; 2021 Jul 28; 31(7):780-785. PubMed ID: 34271776
    [Abstract] [Full Text] [Related]

  • 38. The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
    Arslan M, Vurucu S, Balamtekin N, Unay B, Akin R, Kurt I, Ozcan O.
    Brain Dev; 2009 Jun 28; 31(6):405-10. PubMed ID: 18814980
    [Abstract] [Full Text] [Related]

  • 39. Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
    Rajendiran A, Sampath S.
    BMJ Case Rep; 2011 Sep 28; 2011():. PubMed ID: 22679321
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  • 40. Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
    Akgun A, Sen A, Onal H.
    J Pediatr Endocrinol Metab; 2021 Nov 25; 34(11):1425-1433. PubMed ID: 34448386
    [Abstract] [Full Text] [Related]

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