407 related articles for article (PubMed ID: 16602101)
1. 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]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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; 75(6):1136-42. PubMed ID: 15486829
[TBL] [Abstract][Full Text] [Related]
4. 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; 134(1-2):29-36. PubMed ID: 34535384
[TBL] [Abstract][Full Text] [Related]
5. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
Lee YW; Lee DH; Vockley J; Kim ND; Lee YK; Ki CS
Mol Genet Metab; 2007; 92(1-2):71-7. PubMed ID: 17576084
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. [Clinical and mutational study of a Chinese infant with isovaleric acidemia].
Qiu WJ; Gu XF; Ye J; Han LS; Bai HT; Wang X; Gao XL; Wang Y; Jin J; Zhang HW
Zhonghua Er Ke Za Zhi; 2008 Jul; 46(7):526-30. PubMed ID: 19099814
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML; Aldamiz-Echevarría L; Bueno MA; Barros P; Belanger-Quintana A; Blasco J; García-Silva MT; Márquez-Armenteros AM; Vitoria I; Vives I; Navarrete R; Fernández-Marmiesse A; Pérez B; Pérez-Cerdá C
J Hum Genet; 2017 Mar; 62(3):355-360. PubMed ID: 27904153
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.
Volchenboum SL; Vockley J
J Biol Chem; 2000 Mar; 275(11):7958-63. PubMed ID: 10713113
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.
Chen W; Miao C; Li Y; Wang X; Wu W; Long Q; Jiang Y; Yan Z; Cui Y
Clin Lab; 2023 Sep; 69(9):. PubMed ID: 37702673
[TBL] [Abstract][Full Text] [Related]
16. [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine].
Lund AB; Lund AM
Ugeskr Laeger; 2011 Apr; 173(15):1121-3. PubMed ID: 21672462
[TBL] [Abstract][Full Text] [Related]
17. Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia.
Shigematsu Y; Hata I; Tanaka Y
Clin Chim Acta; 2007; 386(1-2):82-6. PubMed ID: 17850781
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
Vatanavicharn N; Liammongkolkul S; Sakamoto O; Sathienkijkanchai A; Wasant P
Pediatr Int; 2011 Dec; 53(6):990-4. PubMed ID: 22004070
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
