These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 27329611)

  • 21. Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene.
    Liu N; Zhang Y; Dong R; Lv Y; Gao M; Yang X; Liu Y; Gai Z
    Stem Cell Res; 2024 Apr; 76():103314. PubMed ID: 38401345
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids.
    Sanjurjo P; Ruiz JI; Montejo M
    J Inherit Metab Dis; 1997 Nov; 20(6):783-9. PubMed ID: 9427146
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [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; 49(5):556-564. PubMed ID: 33210480
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
    Zaki OK; Priya Doss C G; Ali SA; Murad GG; Elashi SA; Ebnou MSA; Kumar D T; Khalifa O; Gamal R; El Abd HSA; Nasr BN; Zayed H
    Hum Mol Genet; 2017 Aug; 26(16):3105-3115. PubMed ID: 28535199
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Newborn screening for isovaleric acidemia in Quanzhou, China.
    Lin Y; Chen D; Peng W; Wang K; Lin W; Zhuang J; Zheng Z; Li M; Fu Q
    Clin Chim Acta; 2020 Oct; 509():25-29. PubMed ID: 32505769
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Current understanding and progress of research on isovaleric acidemia].
    Zhao Y; Zhu S; Huang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):99-102. PubMed ID: 34964978
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Long-chain polyunsaturated fatty acid concentration in patients with inborn errors of metabolism.
    Vilaseca MA; Gómez-López L; Lambruschini N; Gutiérrez A; García R; Meavilla S; Moreno J; Artuch R
    Nutr Hosp; 2011; 26(1):128-36. PubMed ID: 21519739
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
    Kılıç M; Kaymaz N; Özgül RK
    J Clin Res Pediatr Endocrinol; 2014; 6(1):59-61. PubMed ID: 24637313
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
    Mütze U; Henze L; Gleich F; Lindner M; Grünert SC; Spiekerkoetter U; Santer R; Blessing H; Thimm E; Ensenauer R; Weigel J; Beblo S; Arélin M; Hennermann JB; Marquardt T; Marquardt I; Freisinger P; Krämer J; Dieckmann A; Weinhold N; Keller M; Walter M; Schiergens KA; Maier EM; Hoffmann GF; Garbade SF; Kölker S
    J Inherit Metab Dis; 2021 Jul; 44(4):857-870. PubMed ID: 33496032
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil].
    Fernández Ruano ML; Besga García B; Montero Plata A; Dulín Íñiguez E
    Rev Esp Salud Publica; 2018 Jun; 92():. PubMed ID: 29863107
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
    Bei F; Sun JH; Yu YG; Jia J; Zheng ZJ; Fu QH; Cai W
    Gene; 2013 Jul; 524(2):396-400. PubMed ID: 23587913
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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; 411(23-24):2101-3. PubMed ID: 20807522
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Essential fatty acids in clinically stable children with propionic acidaemia.
    Decsi T; Sperl W; Koletzko B
    J Inherit Metab Dis; 1997 Nov; 20(6):778-82. PubMed ID: 9427145
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.
    Grünert SC; Wendel U; Lindner M; Leichsenring M; Schwab KO; Vockley J; Lehnert W; Ensenauer R
    Orphanet J Rare Dis; 2012 Jan; 7():9. PubMed ID: 22277694
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic mutation profile of isovaleric acidemia patients in Taiwan.
    Lin WD; Wang CH; Lee CC; Lai CC; Tsai Y; Tsai FJ
    Mol Genet Metab; 2007 Feb; 90(2):134-9. PubMed ID: 17027310
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia.
    Loots DT; Mienie LJ; Erasmus E
    Eur J Clin Nutr; 2007 Nov; 61(11):1323-7. PubMed ID: 17299485
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Anesthetic management of a patient with isovaleric acidemia.
    Lam H; Kiberenge R; Nguyen T; Sobey JH; Austin T
    A A Case Rep; 2015 Feb; 4(3):37-8. PubMed ID: 25642957
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
    Vockley J; Ensenauer R
    Am J Med Genet C Semin Med Genet; 2006 May; 142C(2):95-103. PubMed ID: 16602101
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Omega-3 polyunsaturated fatty acid profiling using fingertip-prick whole blood does not require overnight fasting before blood collection.
    Metherel AH; Buzikievich LM; Charkhzarin P; Patterson AC; Peel AC; Howorth AM; Kishi DM; Stark KD
    Nutr Res; 2012 Aug; 32(8):547-56. PubMed ID: 22935337
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.