Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
暂无分享,去创建一个
O. Unal | T. Coşkun | M. Kılıç | A. Dursun | M. Karaca | B. Hismi | A. Tokatlı | S. Sivri | R. Ozgul | Didem Yucel-Yilmaz | D. Aliefendioglu | O. Kucuk
[1] M. Kılıç,et al. Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report , 2014, Journal of clinical research in pediatric endocrinology.
[2] L. Al-Gazali,et al. Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. , 2012, European journal of medical genetics.
[3] H. Waterham,et al. Clinical variability of isovaleric acidemia in a genetically homogeneous population , 2012, Journal of Inherited Metabolic Disease.
[4] M. Leichsenring,et al. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia , 2012, Orphanet Journal of Rare Diseases.
[5] O. Sakamoto,et al. Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia , 2011, Pediatrics international : official journal of the Japan Pediatric Society.
[6] Ç. Kasapkara,et al. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia , 2011, European Journal of Pediatrics.
[7] N. Özbek,et al. Late onset of isovaleric acidemia presenting with bicytopenia. , 2010, Turkish journal of haematology : official journal of Turkish Society of Haematology.
[8] C. Lam,et al. A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. , 2010, Hong Kong medical journal = Xianggang yi xue za zhi.
[9] E. Uysalol,et al. Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis , 2010, Journal of pediatric endocrinology & metabolism : JPEM.
[10] G. Leipnitz,et al. Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats , 2008, Free radical research.
[11] Dong Hwan Lee,et al. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. , 2007, Molecular genetics and metabolism.
[12] M. Wajner,et al. Isovaleric Acid Reduces Na+, K+-ATPase Activity in Synaptic Membranes from Cerebral Cortex of Young Rats , 2007, Cellular and Molecular Neurobiology.
[13] F. Tsai,et al. Genetic mutation profile of isovaleric acidemia patients in Taiwan. , 2007, Molecular genetics and metabolism.
[14] S. Edland,et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. , 2004, American journal of human genetics.
[15] J. Saudubray,et al. Branched-chain organic acidurias. , 2002, Seminars in neonatology : SN.
[16] J. Vockley,et al. Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding. , 2001, Molecular genetics and metabolism.
[17] J. Vockley,et al. Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs. , 2001, Gene.
[18] J. Vockley,et al. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. , 2000, American journal of human genetics.
[19] J. Vockley,et al. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. , 1998, Biochemistry.
[20] T. Coşkun,et al. Isovaleric acidemia. Clinical presentation of 6 cases. , 1998, The Turkish journal of pediatrics.
[21] J. Vockley,et al. Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,. , 1997, Biochemistry.
[22] K. Tanaka,et al. Structural organization of the human isovaleryl-CoA dehydrogenase gene. , 1993, Genomics.
[23] K. Tanaka. Isovaleric acidemia: personal history, clinical survey and study of the molecular basis. , 1990, Progress in clinical and biological research.
[24] D. Barton,et al. Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15. , 1987, Genomics.
[25] W. Fenton,et al. Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: in vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells. , 1987, Archives of biochemistry and biophysics.
[26] W. E. Nelson. Textbook of Pediatrics , 1969 .