160 related articles for article (PubMed ID: 32977617)
1. 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]
2. 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]
3. [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]
4. 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]
5. [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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
Cho JM; Lee BH; Kim GH; Kim YM; Choi JH; Yoo HW
Korean J Pediatr; 2013 Aug; 56(8):351-4. PubMed ID: 24019846
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U; Henze L; Schröter J; Gleich F; Lindner M; Grünert SC; Spiekerkoetter U; Santer R; Thimm E; Ensenauer R; Weigel J; Beblo S; Arélin M; Hennermann JB; Marquardt I; Freisinger P; Krämer J; Dieckmann A; Weinhold N; Schiergens KA; Maier EM; Hoffmann GF; Garbade SF; Kölker S
J Inherit Metab Dis; 2023 Nov; 46(6):1063-1077. PubMed ID: 37429829
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism.
Khan A; Zahid B; Khan S; Ahmad SA
Cureus; 2020 Feb; 12(2):e7150. PubMed ID: 32257695
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.
Li H; Shao F; Zhou W
Mol Genet Metab Rep; 2024 Jun; 39():101088. PubMed ID: 38736698
[TBL] [Abstract][Full Text] [Related]
20. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
