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 *

150 related articles for article (PubMed ID: 33521113)

  • 21. The identification and the excretion pattern of isovaleryl glucuronide in the urine of patients with isovaleric acidemia.
    Hine DG; Tanaka K
    Pediatr Res; 1984 Jun; 18(6):508-12. PubMed ID: 6547525
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Isovaleric acidemia. Clinical presentation of 6 cases.
    Tokatli A; Coşkun T; Ozalp I
    Turk J Pediatr; 1998; 40(1):111-9. PubMed ID: 9673537
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Aspects of Newborn Screening in Isovaleric Acidemia.
    Schlune A; Riederer A; Mayatepek E; Ensenauer R
    Int J Neonatal Screen; 2018 Mar; 4(1):7. PubMed ID: 33072933
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up].
    Dodelson de Kremer R; Depetris de Boldini C; Paschini de Capra A; Hliba E; Corbella L
    Medicina (B Aires); 1992; 52(2):131-40. PubMed ID: 1308904
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.
    Ibarra-González I; Fernández-Lainez C; Guillén-López S; López-Mejía L; Belmont-Matínez L; Sokolsky TD; Amin VR; Kitchener RL; Vela-Amieva M; Naylor EW; Bhattacharjee A
    Clin Chim Acta; 2020 Feb; 501():216-221. PubMed ID: 31707166
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Pancytopenia and metabolic decompensation in a neonate].
    Tan JQ; Chen DY; Mo ZQ; Li ZT; Huang JW; Cai R; Yan TZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Nov; 18(11):1150-1153. PubMed ID: 27817783
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
    Kaya N; Colak D; Al-Bakheet A; Al-Younes B; Tulbah S; Daghestani M; Al-Mutairi F; Al-Amoudi M; Al-Odaib A; Al-Aqeel AI
    Gene; 2013 Jan; 513(2):297-300. PubMed ID: 23063737
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Clinical variability of isovaleric acidemia in a genetically homogeneous population.
    Dercksen M; Duran M; Ijlst L; Mienie LJ; Reinecke CJ; Ruiter JP; Waterham HR; Wanders RJ
    J Inherit Metab Dis; 2012 Nov; 35(6):1021-9. PubMed ID: 22350545
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Isovaleric Acidemia: A Case Report.
    Zegarra Buitron E; Vidal Panduro DA; Guillén Ramírez NS; González Arteaga M
    Cureus; 2023 Nov; 15(11):e49362. PubMed ID: 38146578
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Isovaleric acidemia].
    Gerdes AM; Gregersen N; Güttler F; Lúdvigsson P; Dinesen J; Holm V
    Ugeskr Laeger; 1989 Oct; 151(43):2794-7. PubMed ID: 2588357
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
    Vockley J; Rogan PK; Anderson BD; Willard J; Seelan RS; Smith DI; Liu W
    Am J Hum Genet; 2000 Feb; 66(2):356-67. PubMed ID: 10677295
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study.
    Chinen Y; Nakamura S; Tamashiro K; Sakamoto O; Tashiro K; Inokuchi T; Nakanishi K
    Mol Genet Metab Rep; 2017 Jun; 11():2-5. PubMed ID: 30547004
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The glycine
    Kühn S; Williams ME; Dercksen M; Sass JO; van der Sluis R
    Comput Struct Biotechnol J; 2023; 21():1236-1248. PubMed ID: 36817957
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
    Vockley J; Parimoo B; Tanaka K
    Am J Hum Genet; 1991 Jul; 49(1):147-57. PubMed ID: 2063866
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.
    Qadi AM; Hamadah HK; Jijeh AM; Hijazi OM; Kabbani MS
    J Saudi Heart Assoc; 2014 Jul; 26(3):170-3. PubMed ID: 24954991
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay.
    Hyman DB; Tanaka K
    Pediatr Res; 1986 Jan; 20(1):59-61. PubMed ID: 3753755
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
    Szymańska E; Jezela-Stanek A; Bogdańska A; Rokicki D; Ehmke Vel Emczyńska-Seliga E; Pajdowska M; Ciara E; Tylki-Szymańska A
    Diagnostics (Basel); 2020 Sep; 10(10):. PubMed ID: 32977617
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.