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Journal Article
Journal of medical genetics, ISSN 0022-2593, 11/2018, Volume 55, Issue 11, pp. 753 - 764
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 39 - 47
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine.... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Diabetic Nephropathies - enzymology | Prognosis | Diabetes Mellitus, Type 2 - genetics | Humans | Brain Diseases, Metabolic, Inborn - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Brain Diseases, Metabolic, Inborn - enzymology | Diabetic Nephropathies - diagnosis | Brain Diseases, Metabolic, Inborn - diagnosis | Diabetes Mellitus, Type 2 - epidemiology | Protective Factors | Amino Acid Metabolism, Inborn Errors - diagnosis | Dipeptidases - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - genetics | Dipeptidases - genetics | Risk Factors | Diabetes Mellitus, Type 2 - enzymology | Diabetic Nephropathies - genetics | Polymorphism, Genetic | Diabetes Mellitus, Type 2 - diagnosis | Animals | Diabetic Nephropathies - epidemiology | Mutation | Amino Acid Metabolism, Inborn Errors - enzymology | Type 2 diabetes | Medical research | Medical colleges | Chronic kidney failure | Metabolites | Diabetic nephropathies | Medicine, Experimental | Development and progression | Children | Diseases | Glomerulonephritis | Complications | Syngeneic grafts | Diabetes mellitus | Carnosine | Dipeptidase | Molecular modelling | Nephropathy | Histidine | Rodents | Renal failure | Diabetes | Diabetes mellitus (non-insulin dependent) | Kidney transplantation | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 792 - 797
Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria - enzymology | Acidosis, Lactic - genetics | Glycine - urine | Humans | Molecular Sequence Data | Male | Mutation, Missense | Pyruvate Dehydrogenase Complex - genetics | Base Sequence | Fatal Outcome | Epilepsy - genetics | Infant, Newborn, Diseases - genetics | Escherichia coli - growth & development | Energy Metabolism - genetics | Abnormalities, Multiple - genetics | Infant, Newborn | Fibroblasts - metabolism | Epilepsy - enzymology | Pyruvate Dehydrogenase Complex - metabolism | Amino Acid Sequence | Glycine - blood | Gene Expression | Muscle, Skeletal - enzymology | Muscle Hypotonia - genetics | Infant, Newborn, Diseases - diagnosis | Mitochondria - metabolism | Sequence Analysis, DNA | Chromosomes, Human, Pair 4 | Infant, Newborn, Diseases - enzymology | Epilepsy - diagnosis | Homozygote | Escherichia coli - genetics | Abnormalities, Multiple - diagnosis | Sulfurtransferases - deficiency | Abnormalities, Multiple - enzymology | Consanguinity | Energy metabolism | Mitochondria | Bioenergetics | Gene mutations | Epilepsy in children | Physiological aspects | Causes of | Genetic aspects | Research | Proteins | Amino acids | Mutation | Metabolism | Enzyme kinetics | Index Medicus | Urine | Enzymes | Lipoic acid | Epilepsy | Pyruvate dehydrogenase (lipoamide) | Pyruvic acid | Glycine | Prosthetic groups | Decarboxylation | Oxidation | Lactic acidosis | Report
Journal Article