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Journal Abstract Search

242 related items for PubMed ID: 17027310

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  • 7. Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
    Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S.
    Tohoku J Exp Med; 2015 Jun; 236(2):103-6. PubMed ID: 26018748
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  • 9. Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
    D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J.
    Mol Genet Metab; 2021 Jun; 134(1-2):29-36. PubMed ID: 34535384
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  • 12. Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
    Li Y, Shen M, Jin Y, Liu Y, Kang L, He R, Song J, Luo L, Yang Y.
    Clin Chim Acta; 2019 Nov; 498():116-121. PubMed ID: 31442447
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  • 13. [Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].
    Hu Z, Yang J, Hu L, Zhao Y, Zhang C, Yang R, Huang X.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct 25; 49(5):556-564. PubMed ID: 33210480
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  • 14. [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
    Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Jin J, Gu XF.
    Zhonghua Yi Xue Za Zhi; 2008 Aug 05; 88(30):2122-6. PubMed ID: 19080473
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  • 15. Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy.
    Castelnovi C, Moseley K, Yano S.
    Clin Chim Acta; 2010 Dec 14; 411(23-24):2101-3. PubMed ID: 20807522
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  • 16. [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine].
    Lund AB, Lund AM.
    Ugeskr Laeger; 2011 Apr 11; 173(15):1121-3. PubMed ID: 21672462
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  • 17. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D.
    Am J Hum Genet; 2004 Dec 11; 75(6):1136-42. PubMed ID: 15486829
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  • 19. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
    Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A.
    Eur J Med Genet; 2014 Oct 11; 57(10):596-601. PubMed ID: 25220015
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  • 20. [Isovaleric acidemia].
    Gerdes AM, Gregersen N, Güttler F, Lúdvigsson P, Dinesen J, Holm V.
    Ugeskr Laeger; 1989 Oct 23; 151(43):2794-7. PubMed ID: 2588357
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