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Human Mutation, ISSN 1059-7794, 11/2019, Volume 40, Issue 11, pp. 1909 - 1909
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2014, Volume 9, Issue 5, p. e97646
Objective: Uric acid is the end product of purine metabolism in humans, and increased serum uric acid concentrations lead to gout. The objective of the current... 
METHYLENETETRAHYDROFOLATE REDUCTASE | SLC2A9 | RENAL HYPOURICEMIA | ABCG2 GENE | RISK-FACTORS | HYPERURICEMIA | GOUT | MULTIDISCIPLINARY SCIENCES | TETRAHYDROFOLATE REDUCTASE GENE | POLYMORPHISM | URATE TRANSPORTER | ATP Binding Cassette Transporter, Sub-Family G, Member 2 | Glucose Transport Proteins, Facilitative - blood | Humans | Middle Aged | Male | Metabolic Syndrome - blood | ATP-Binding Cassette Transporters - genetics | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Methylenetetrahydrofolate Reductase (NADPH2) - blood | Adult | Female | Uric Acid - blood | Glucose Transport Proteins, Facilitative - genetics | Neoplasm Proteins - genetics | Gene Expression | Alcohol Drinking - pathology | Alcohol Drinking - genetics | Regression Analysis | Alcohol Drinking - blood | Metabolic Syndrome - genetics | ATP-Binding Cassette Transporters - blood | Adolescent | Sex Factors | Neoplasm Proteins - blood | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Metabolic Syndrome - pathology | Cohort Studies | Genetic research | Physiological aspects | Genetic aspects | Drinking of alcoholic beverages | Uric acid | Wine | Disease | Control methods | Anthropometry | Genes | Gout | Alcohol | Genomes | Arthritis | Methylenetetrahydrofolate reductase | Criteria | Metabolic syndrome | Alcohols | Demographic variables | Body mass index | Demographics | Regression models | Rheumatism | ABCG gene | Genetic factors | Hypertension | Enzymes | Adenosine | Drinking behavior | Regression analysis | Metabolism | Medicine | Studies | Genetic variance | Hospitals | Acids | Mutation | Transporter | Metabolic disorders
Journal Article
FASEB Journal, ISSN 0892-6638, 2017, Volume 31, Issue 12, pp. 5495 - 5506
Classical homocystinuria (HCU) is an inborn error of sulfur amino acidmetabolism caused by deficient activity of cystathionine beta-synthase (CBS), resulting... 
PEGylation | Cystathionine b-synthase | Homocysteine | Preclinical drug development | Rare inherited disease | homocysteine | THERAPY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | BIOLOGY | cystathionine beta-synthase | MODEL | rare inherited disease | DEFICIENCY | preclinical drug development | CELL BIOLOGY | Recombinant Proteins - therapeutic use | Liver - pathology | Liver - enzymology | Homocystinuria - drug therapy | Osteoporosis - prevention & control | Liver - metabolism | Liver Diseases - prevention & control | Fatty Liver - prevention & control | Male | Cystathionine beta-Synthase - metabolism | Homocystinuria - metabolism | Homocystinuria - pathology | Mice, Knockout | Homocystinuria - enzymology | Animals | Cystathionine beta-Synthase - therapeutic use | Liver - drug effects | Body Composition - drug effects | Fatty Liver - enzymology | Liver Diseases - enzymology | Female | Mice | Cystathionine beta-Synthase - genetics | Disease Models, Animal | Neonates | Brain | Liver | Medical services | Amino acids | Damage prevention | Body composition | Osteoporosis | Mitochondria | Homocystinuria | Fatty liver | Body composition (biology) | Polyethylene glycol | Rodents | Animal tissues | Biocompatibility | Sulfur | Recombinant | Enzymes | Kidneys | Liver diseases | Abnormalities | Medical treatment | Mortality | Metabolism | Patients | Steatosis | Diet | Hepatocytes | Death | Endoplasmic reticulum | Research | cystathionine β-synthase
Journal Article
Molecular Therapy, ISSN 1525-0016, 03/2018, Volume 26, Issue 3, pp. 834 - 844
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2017, Volume 40, Issue 1, pp. 21 - 48
Journal Article