Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
暂无分享,去创建一个
L. Al-Gazali | B. Ali | J. Hertecant | S. Al-yahyaee | I. Ben-Rebeh | F. Al-Jasmi | M. Marah | Leila Ayadi | Salma Ben Salem | Thikra Abbas
[1] K. Rasmussen. [Isovaleric acidemia]. , 2020, Ugeskrift for laeger.
[2] L. Al-Gazali,et al. Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. , 2012, Genetic testing and molecular biomarkers.
[3] O. Sakamoto,et al. Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia , 2011, Pediatrics international : official journal of the Japan Pediatric Society.
[4] Ryan W. Kim,et al. Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing , 2011, Science Translational Medicine.
[5] 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.
[6] L. Al-Gazali,et al. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE) , 2010, Human mutation.
[7] L. Al-Gazali,et al. A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. , 2009, Saudi medical journal.
[8] X. Gu,et al. [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. , 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.
[9] D. Rigante,et al. Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance , 2008, Scandinavian journal of gastroenterology.
[10] 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.
[11] F. Tsai,et al. Genetic mutation profile of isovaleric acidemia patients in Taiwan. , 2007, Molecular genetics and metabolism.
[12] Hanan Hamamy,et al. Genetic disorders in the Arab world , 2006, BMJ : British Medical Journal.
[13] Jerry Vockley,et al. Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity , 2006, American journal of medical genetics. Part C, Seminars in medical genetics.
[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. Smeitink,et al. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene , 2003, Journal of Inherited Metabolic Disease.
[16] Dong Hwan Lee,et al. Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis , 2000 .
[17] 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.
[18] R. Stevens,et al. Structure of Tetrameric Human Phenylalanine Hydroxylase and Its Implications for Phenylketonuria* , 1998, The Journal of Biological Chemistry.
[19] J. Vockley,et al. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. , 1998, Biochemistry.
[20] T. D. Schneider,et al. Information content of individual genetic sequences. , 1997, Journal of theoretical biology.
[21] T. D. Schneider,et al. Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. , 1997, Nucleic acids research.
[22] J. Vockley,et al. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase. , 1995, Biochemistry.
[23] K. Tanaka,et al. Structural organization of the human isovaleryl-CoA dehydrogenase gene. , 1993, Genomics.
[24] K. Tanaka,et al. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. , 1991, American journal of human genetics.
[25] K. Tanaka,et al. Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. , 1990, The Journal of clinical investigation.
[26] 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.
[27] K. Isselbacher,et al. Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. , 1967, The New England journal of medicine.
[28] K. Isselbacher,et al. Isovaleric acidemia: a new genetic defect of leucine metabolism. , 1966, Proceedings of the National Academy of Sciences of the United States of America.
[29] M. Al-Mendalawi. New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. , 2011, Saudi medical journal.
[30] T. D. Schneider,et al. Information analysis of human splice site mutations , 1998, Human mutation.
[31] N. Guex,et al. SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling , 1997, Electrophoresis.