| A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia. | 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. | 11/18/2023 |
| Nine novel isovaleryl-CoA dehydrogenase mutations have been found in a Spanish cohort with isovaleric acidemia. | 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. | 05/20/2017 |
| Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients | 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. | 02/20/2016 |
| kinetics and ligand binding of isovaleryl-CoA dehydrogenase | Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.
Mohsen AW, Vockley J., Free PMC Article | 08/22/2015 |
| study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population | 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. | 06/8/2013 |
| A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates. | Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
Hertecant JL, Ben-Rebeh I, Marah MA, Abbas T, Ayadi L, Ben Salem S, Al-Jasmi FA, Al-Gazali L, Al-Yahyaee SA, Ali BR. | 04/27/2013 |
| All were homozygous for a single c.367 G > A (p.G123R) mutation. Despite the genetic homogeneity of this South African group, the clinical presentation varied, ranging from mental handicap and episodes of metabolic derangement to an asymptomatic state | 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. | 04/6/2013 |
| A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population. | A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.
Lee HH, Lee RS, Lai CK, Yuen YP, Siu TS, Chan AY, Lam CW. | 10/4/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. | 12/2/2009 |
| Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia | 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., Free PMC Article | 01/21/2010 |
| Replacement of the catalytic glutamate in either short-chain acyl-CoA dehydrogenase (SCAD) or isovaleryl-CoA dehydrogenase (IVD)with glycine resulted in a several-fold reduction in affinity for substrate. | Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.
Goetzman ES, He M, Nguyen TV, Vockley J. | 01/21/2010 |