Untargeted metabolomic analysis of urine samples for diagnosis of inherited metabolic disorders
暂无分享,去创建一个
Lin Zou | Jiang Zhu | Ke-xing Wan | Jing-kun Miao | Zhao-jian Yuan | Hao Liu | Juan Zhang | Dong-juan Wang | Qiu Li | Xiaoyan He | L. Zou
[1] I. Knerr,et al. Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis , 2020, JIMD reports.
[2] Dylan Mordaunt,et al. Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism , 2020, International journal of molecular sciences.
[3] O. Fiehn,et al. Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics , 2019, Metabolites.
[4] Y. Takeshima,et al. A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia , 2019, JIMD reports.
[5] S. Wortmann,et al. Choline‐related‐inherited metabolic diseases—A mini review , 2019, Journal of inherited metabolic disease.
[6] M. Mussap,et al. Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism. , 2018, Annals of translational medicine.
[7] U. Lichter-Konecki,et al. Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. , 2018, Pediatric clinics of North America.
[8] Jasper Engel,et al. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients , 2018, Journal of Inherited Metabolic Disease.
[9] Y. Sandlers,et al. The future perspective: metabolomics in laboratory medicine for inborn errors of metabolism. , 2017, Translational research : the journal of laboratory and clinical medicine.
[10] F. Salvatore,et al. “Classical organic acidurias”: diagnosis and pathogenesis , 2017, Clinical and Experimental Medicine.
[11] D. KennedyAdam,et al. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. , 2016 .
[12] F. Corrales,et al. Methylthioadenosine (MTA) Regulates Liver Cells Proteome and Methylproteome: Implications in Liver Biology and Disease* , 2016, Molecular & Cellular Proteomics.
[13] J. Gregory,et al. Direct and Functional Biomarkers of Vitamin B6 Status. , 2015, Annual review of nutrition.
[14] Adam D. Kennedy,et al. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism , 2015, Journal of Inherited Metabolic Disease.
[15] P. Bruheim,et al. Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders. , 2014, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.
[16] A. Boneh,et al. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations , 2015, Journal of Inherited Metabolic Disease.
[17] G. Cioni,et al. Inborn errors of creatine metabolism and epilepsy , 2013, Epilepsia.
[18] S. Grebe,et al. LC-MS/MS in the Clinical Laboratory - Where to From Here? , 2011, The Clinical biochemist. Reviews.
[19] Nikhat Parveen,et al. Methylthioadenosine/S‐adenosylhomocysteine nucleosidase, a critical enzyme for bacterial metabolism , 2011, Molecular microbiology.
[20] Joong-Hoon Ahn,et al. Production of genistein from naringenin using Escherichia coli containing isoflavone synthase-cytochrome P450 reductase fusion protein. , 2009, Journal of microbiology and biotechnology.
[21] Eva Albers,et al. Metabolic characteristics and importance of the universal methionine salvage pathway recycling methionine from 5′‐methylthioadenosine , 2009, IUBMB life.
[22] W. Rizzo,et al. Mitochondrial fatty-acid oxidation disorders. , 2008, Seminars in pediatric neurology.
[23] B. Robinson. Lactic acidemia and mitochondrial disease. , 2006, Molecular genetics and metabolism.
[24] R. Dixon,et al. Molecules of InterestGenistein , 2002 .
[25] K. Komiyama,et al. [The suppressive effect of pyrrole-2-carboxylic acid on platelet aggregation]. , 1986, The Japanese journal of antibiotics.
[26] L. Bailey,et al. Urinary 4-pyridoxic acid excretion in 24-hour versus random urine samples as a measurement of vitamin B6 status in humans. , 1984, The American journal of clinical nutrition.
[27] Y. Yamanishi,et al. Collagen metabolism. I. Significance of urinary pyrrole-2-carboxylic acid. , 1972, The Journal of clinical endocrinology and metabolism.
[28] G. Soloms,et al. The Guthrie Test in Monitoring the Diet in PKU An Appraisal of Its Applicability , 1965 .
[29] A. Meister,et al. Conversion of hydroxyproline to pyrrole-2-carboxylic acid. , 1957, The Journal of biological chemistry.