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Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 2013, Volume 63, Issue 1, pp. 119 - 123
A 20-year-old man was hospitalized for malignant hypertension, mechanical hemolysis, and kidney failure. Kidney biopsy confirmed glomerular and arteriolar... 
Nephrology | MMACHC (methylmalonic aciduria and homocystinuria type C protein) | cobalamin C disease | eculizumab | cobalamin | chronic kidney failure | Hemolytic uremic syndrome (HUS) | HOMOCYSTINURIA CBLC | MICROANGIOPATHY | COMBINED METHYLMALONIC ACIDURIA | DISEASE | DISORDER | UROLOGY & NEPHROLOGY | SPECTRUM | MUTATIONS | MMACHC | Methionine - blood | Recurrence | Kidney - pathology | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Male | Leucovorin | Homocystinuria - metabolism | Hydroxocobalamin - administration & dosage | Vitamin B Complex - administration & dosage | Kidney Function Tests | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Betaine - administration & dosage | Homocystinuria - physiopathology | Kidney - metabolism | Homocysteine - urine | Amino Acid Metabolism, Inborn Errors - genetics | Antibodies, Monoclonal, Humanized - pharmacology | Adult | Drug Resistance | Kidney - physiopathology | Methylmalonic Acid - urine | Diagnosis, Differential | Homocystinuria - drug therapy | Treatment Outcome | Vitamin B 12 Deficiency - congenital | Carrier Proteins - genetics | Hypertension, Malignant - etiology | Lipotropic Agents - administration & dosage | Biopsy | Mutation | Homocystinuria - diagnosis | Homocystinuria - genetics | Immunologic Factors - pharmacology | Amino Acid Metabolism, Inborn Errors - drug therapy | Renal Dialysis | Immunologic Factors | Hypertension, Malignant | Kidney | Life Sciences | Antibodies, Monoclonal, Humanized | Homocystinuria | Immunology | Betaine | Carrier Proteins | Hydroxocobalamin | Methionine | Amino Acid Metabolism, Inborn Errors | Vitamin B Complex | Lipotropic Agents | Methylmalonic Acid | Homocysteine
Journal Article
Human molecular genetics, ISSN 0964-6906, 12/2015, Volume 24, Issue 23, pp. 6614 - 6623
Journal Article
Neurology, ISSN 0028-3878, 2006, Volume 67, Issue 3, pp. 480 - 484
Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and... 
Glycine - analogs & derivatives | Glycine - metabolism | Humans | Male | Epilepsy - etiology | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - etiology | Adolescent | Creatine - metabolism | Adult | Female | Child | Metabolism, Inborn Errors - physiopathology
Journal Article
1979, Nutrition and the brain, ISBN 9780890042465, Volume 4., x, 222
Book
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 94, Issue 4, pp. 397 - 402
Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. We report... 
Urea Cycle Disorders Consortium | Clinical research | Rare diseases network | Inborn errors of metabolism | Hyperammonemia | MEDICINE, RESEARCH & EXPERIMENTAL | inborn errors of metabolism | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | rare diseases network | ALTERNATIVE PATHWAY THERAPY | INBORN-ERRORS | METABOLISM | clinical research | ORNITHINE TRANSCARBAMYLASE DEFICIENCY | GENETICS & HEREDITY | hyperammonemia | United States | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Middle Aged | Child, Preschool | Infant | Male | Ornithine Carbamoyltransferase Deficiency Disease - metabolism | Amino Acid Metabolism, Inborn Errors - epidemiology | Ornithine Carbamoyltransferase Deficiency Disease - epidemiology | Amino Acids - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Ethnic Groups | Aged, 80 and over | Citrullinemia | Adult | Female | Urea - metabolism | Child | Infant, Newborn | Rare Diseases - metabolism | Ornithine Carbamoyltransferase Deficiency Disease - therapy | Rare Diseases - physiopathology | Cross-Sectional Studies | Rare Diseases - epidemiology | Amino Acid Metabolism, Inborn Errors - therapy | Rare Diseases - therapy | Adolescent | Ornithine Carbamoyltransferase Deficiency Disease - physiopathology | Aged | Longitudinal Studies | Physiological aspects | Medicine, Experimental | Medical research | Urea | Medical errors | Analysis
Journal Article
Journal Article