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American journal of kidney diseases, ISSN 0272-6386, 2014, 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
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, p. 12
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 148 - 148
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2013, Volume 110, Issue 33, pp. 13552 - 13557
Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal... 
Kidneys | Albs | Disease models | Heterozygotes | Metabolic diseases | Mice | Kidney diseases | Proximal tubules | Biological markers | Glomerular filtration rate | Cobalamin | Megamitochondria | Chronic renal failure | Organic acidemia | LIPOCALIN | BIOMARKER | chronic renal failure | megamitochondria | MULTIDISCIPLINARY SCIENCES | NEUTROPHIL GELATINASE | ACIDOSIS | HUMANS | EXCRETION | GENE DELIVERY RESCUES | cobalamin | organic acidemia | MOUSE MODEL | ACIDURIA | MICE | Immunohistochemistry | Humans | DNA Primers - genetics | Ubiquinone - pharmacology | Methylmalonyl-CoA Mutase - metabolism | Microarray Analysis | Glomerular Filtration Rate - genetics | Amino Acid Metabolism, Inborn Errors - pathology | Real-Time Polymerase Chain Reaction | Disease Models, Animal | Biomarkers - metabolism | Kidney Tubules, Proximal - physiopathology | Methylmalonyl-CoA Mutase - genetics | Microscopy, Electron, Transmission | Enzyme-Linked Immunosorbent Assay | Transgenes - genetics | Genotype | Antioxidants - pharmacology | Methylmalonyl-CoA Mutase - deficiency | Blotting, Western | Mice, Knockout | Antioxidants - therapeutic use | Animals | Fluorescein-5-isothiocyanate | Nephritis, Interstitial - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Amino Acid Metabolism, Inborn Errors - drug therapy | Methylmalonic acidemia | Mitochondrial diseases | Research | Biological Sciences
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2007, Volume 80, Issue 5, pp. 931 - 937
Journal Article
Journal of inherited metabolic disease, ISSN 1573-2665, 2016, Volume 40, Issue 1, pp. 75 - 101
Journal Article