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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
The FASEB Journal, ISSN 0892-6638, 12/2017, Volume 31, Issue 12, pp. 5495 - 5506
ABSTRACT Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by deficient activity of cystathionine β‐synthase (CBS),... 
homocysteine | PEGylation | rare inherited disease | cystathionine β‐synthase | preclinical drug development | Cystathionine b-synthase | Homocysteine | Preclinical drug development | Rare inherited disease | THERAPY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | BIOLOGY | cystathionine beta-synthase | MODEL | DEFICIENCY | 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 | 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 Genetics and Metabolism, ISSN 1096-7192, 12/2013, Volume 110, Issue 4, pp. 454 - 459
Journal Article
American Journal of Clinical Nutrition, ISSN 0002-9165, 03/2015, Volume 101, Issue 3, pp. 646 - 658
Background: Increased consumption of folic acid is prevalent, leading to concerns about negative consequences. The effects of folic acid on the liver, the... 
Methylenetetrahydrofolate reductase | Lipid metabolism | Liver | Choline metabolism | Folic acid | liver | CHOLINE | NEURAL-TUBE DEFECTS | lipid metabolism | choline metabolism | 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE | COMMON MUTATION | methylenetetrahydrofolate reductase | NUTRITION & DIETETICS | INHIBITION | RISK-FACTOR | MOUSE MODEL | folic acid | DIETARY-FOLATE | FORTIFICATION | Liver - pathology | Enzyme Inhibitors - poisoning | Folic Acid - poisoning | Non-alcoholic Fatty Liver Disease - etiology | Homocystinuria - etiology | Male | Methylenetetrahydrofolate Reductase (NADPH2) - metabolism | Homocystinuria - metabolism | Liver - physiopathology | Homocystinuria - physiopathology | Psychotic Disorders - physiopathology | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Mice, Mutant Strains | Psychotic Disorders - pathology | Lipogenesis | Methylenetetrahydrofolate Reductase (NADPH2) - deficiency | Dietary Supplements - poisoning | Methylenetetrahydrofolate Reductase (NADPH2) - antagonists & inhibitors | Specific Pathogen-Free Organisms | Liver - metabolism | Gene Expression Regulation | Organ Size | Lipid Metabolism | Muscle Spasticity - metabolism | Muscle Spasticity - pathology | Homocystinuria - pathology | Muscle Spasticity - etiology | Psychotic Disorders - metabolism | Animals | Heterozygote | Mice, Inbred BALB C | Muscle Spasticity - physiopathology | Mutation | Methylation | Psychotic Disorders - etiology | Fetal alcohol syndrome | Liver diseases | RNA | Cytochrome P-450 | Effect of alcohol on | Gene expression | S-adenosylmethionine | Metabolites | Choline | Physiological aspects | Fetus | Protein binding | Metabolism | Health aspects | Risk factors
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 3, pp. 571 - 582
Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective,... 
Ophthalmology | RETINAL DEGENERATION | HOMOCYSTINURIA CBLC | HOMOCYSTEINE | DRUG-DELIVERY | CBLC-TYPE | DEFECT | OPHTHALMOLOGY | CLINICAL HETEROGENEITY | NATURAL-HISTORY | COMBINED METHYLMALONIC ACIDURIA | CHILDREN | Optical Imaging | Follow-Up Studies | Humans | Nystagmus, Pathologic - genetics | Optic Nerve Diseases - diagnosis | Child, Preschool | Strabismus - genetics | Macular Degeneration - diagnosis | Macular Degeneration - drug therapy | Homocystinuria - physiopathology | Adult | Retrospective Studies | Child | Nystagmus, Pathologic - drug therapy | Visual Acuity - physiology | Hydroxocobalamin - therapeutic use | Electroretinography | Strabismus - physiopathology | Homocystinuria - drug therapy | Macular Degeneration - physiopathology | Optic Nerve Diseases - physiopathology | Tomography, Optical Coherence | Vitamin B 12 Deficiency - diagnosis | Vitamin B Complex - therapeutic use | Strabismus - diagnosis | Vitamin B 12 Deficiency - physiopathology | Injections, Intramuscular | Nystagmus, Pathologic - physiopathology | Vitamin B 12 Deficiency - drug therapy | Vitamin B 12 Deficiency - congenital | Disease Progression | Optic Nerve Diseases - drug therapy | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Phenotype | Macular Degeneration - genetics | Nystagmus, Pathologic - diagnosis | Adolescent | Vitamin B 12 Deficiency - genetics | Strabismus - drug therapy | Homocystinuria - diagnosis | Homocystinuria - genetics | Biopolymers | Genomics
Journal Article
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 06/2008, Volume 79, Issue 6, pp. 725 - 728
Background:Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the... 
HETEROGENEITY | SURGERY | HOMOCYSTINURIA CBLC | HOMOCYSTEINE | ACIDEMIA | METABOLISM | PSYCHIATRY | COMBINED METHYLMALONIC ACIDURIA | DEFICIENCY | CLINICAL NEUROLOGY | Gene Duplication | Follow-Up Studies | Genes, Recessive - genetics | Humans | Male | Hydroxocobalamin - administration & dosage | Mutation, Missense | Brain Diseases, Metabolic, Inborn - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - genetics | DNA Mutational Analysis | Spinal Cord - pathology | Adult | Female | Brain Diseases, Metabolic, Inborn - genetics | Methylmalonic Acid - urine | Cerebral Ventricles - pathology | Homocystinuria - drug therapy | Injections, Intramuscular | Carrier Proteins - genetics | Magnetic Resonance Imaging | Adolescent | Chromosome Aberrations | Brain - pathology | Neurologic Examination - drug effects | Brain Diseases, Metabolic, Inborn - drug therapy | Infusions, Intravenous | Homocystinuria - diagnosis | Homocystinuria - genetics | Genetic Carrier Screening | Amino Acid Metabolism, Inborn Errors - drug therapy | Development and progression | Genetic aspects | Research | Vitamin B12 deficiency | Pathology, Molecular | Brain | Brain Diseases, Metabolic, Inborn | Neurons and Cognition | Heterozygote Detection | Life Sciences | Homocystinuria | Cerebral Ventricles | Carrier Proteins | Hydroxocobalamin | Genes, Recessive | Neurologic Examination | Spinal Cord | Amino Acid Metabolism, Inborn Errors | Cognitive Sciences | Methylmalonic Acid
Journal Article