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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
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
Journal of Physiology, ISSN 0022-3751, 2013, Volume 591, Issue 2, pp. 571 - 592
Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | RESPIRATORY-CHAIN | PHYSIOLOGY | MAGNETIC-RESONANCE-SPECTROSCOPY | ACTIVATED PROTEIN-KINASE | HUMAN BRAIN | IN-VIVO | ACETYL-COA CARBOXYLASE | NEUROSCIENCES | HUMAN SKELETAL-MUSCLE | BETA-GUANIDINOPROPIONIC ACID | ORAL SUPPLEMENTATION | Speech Disorders - diet therapy | Developmental Disabilities - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Amidinotransferases - genetics | Muscle, Skeletal - metabolism | Amino Acid Metabolism, Inborn Errors - diet therapy | Muscle Fibers, Skeletal - metabolism | Mitochondria - ultrastructure | Intellectual Disability - metabolism | Proton-Translocating ATPases - metabolism | Speech Disorders - pathology | Amino Acid Metabolism, Inborn Errors - metabolism | Developmental Disabilities - pathology | Adenosine Triphosphate - metabolism | Creatine - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - diet therapy | Hand Strength | Developmental Disabilities - physiopathology | Speech Disorders - metabolism | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy | Intellectual Disability - pathology | Ischemia - metabolism | Lipid Metabolism | Muscular Atrophy - genetics | Mitochondria - metabolism | Amidinotransferases - metabolism | Speech Disorders - physiopathology | Mice, Knockout | Intellectual Disability - physiopathology | Phosphates - metabolism | Animals | Energy Metabolism | Muscle, Skeletal - physiopathology | Hindlimb - pathology | Muscle Fibers, Skeletal - pathology | Creatine Kinase - metabolism | Creatine - therapeutic use | Mice | Muscle, Skeletal - pathology | Developmental Disabilities - diet therapy | Hydrogen-Ion Concentration | Physiological aspects | Creatine | Homeostasis | Enzymes | Musculoskeletal system | Biosynthesis | Metabolism | Morphology | Skeletal Muscle and Exercise
Journal Article
Pediatric Research, ISSN 0031-3998, 06/2006, Volume 59, Issue 6, pp. 840 - 847
Journal Article
Nephrology, ISSN 1320-5358, 10/2018, Volume 23, Issue 10, pp. 957 - 961
ABSTRACT Severe urea cycle defects (UCD), organic acidemias (OA) and maple syrup urine disease (MSUD) are life‐threatening disorders presenting in the first... 
inborn errors of metabolism (IEM) | hyperammonemia | maple syrup urine disease (MSUD) | renal replacement therapy (RRT) | urea cycle disorder (UCD) | SURVIVAL | LIVER-TRANSPLANTATION | MANAGEMENT | UREA CYCLE DISORDERS | DIALYSIS | CHILDREN | UROLOGY & NEPHROLOGY | INFANT | SYRUP URINE DISEASE | METHYLMALONIC ACIDEMIA | Liver Transplantation | Age Factors | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Renal Replacement Therapy - methods | Child, Preschool | Infant | Male | Urea Cycle Disorders, Inborn - therapy | Maple Syrup Urine Disease - diagnosis | Recovery of Function | Amino Acid Metabolism, Inborn Errors - diagnosis | Time Factors | Amino Acid Metabolism, Inborn Errors - mortality | Female | Child Development | Urea Cycle Disorders, Inborn - physiopathology | Infant, Newborn | Maple Syrup Urine Disease - mortality | Maple Syrup Urine Disease - therapy | Risk Factors | Maple Syrup Urine Disease - physiopathology | Treatment Outcome | Renal Replacement Therapy - mortality | Amino Acid Metabolism, Inborn Errors - therapy | Urea Cycle Disorders, Inborn - diagnosis | Urea Cycle Disorders, Inborn - mortality | Renal Replacement Therapy - adverse effects | Metabolism, Inborn errors of | Infants (Newborn) | Physiological aspects | Ammonia | Coma | Urine | Neonates | Inborn errors of metabolism | Syngeneic grafts | Maple syrup urine disease | Leucine | Survival | Patients | Urea | Allografts | Sepsis | Birth weight | Renal replacement therapy | Intubation | Liver transplantation
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 57 - 67
Journal Article
Molecular Therapy, ISSN 1525-0016, 10/2015, Volume 23, Issue 10, pp. 1572 - 1581
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2007, Volume 117, Issue 11, pp. 3258 - 3270
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2017, Volume 122, Issue 1-2, pp. 67 - 75
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 09/2008, Volume 3, Issue 5, pp. 1430 - 1436
Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL.... 
OCULOCEREBRORENAL SYNDROME | HYPERCALCIURIA | GENE | HYPOPHOSPHATEMIC RICKETS | TRAFFICKING | UROLOGY & NEPHROLOGY | GLYCOSURIA | MUTATIONS | OCRL1 | FANCONI-SYNDROME | DENT-DISEASE | Oculocerebrorenal Syndrome - genetics | Lysosomal Storage Diseases - physiopathology | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Acidosis, Renal Tubular - genetics | Child, Preschool | Oculocerebrorenal Syndrome - complications | Male | Renal Tubular Transport, Inborn Errors - genetics | Nephrocalcinosis - physiopathology | Albuminuria - physiopathology | Amino Acid Metabolism, Inborn Errors - genetics | Fanconi Syndrome - physiopathology | Adult | Female | Hypercalciuria - genetics | Fanconi Syndrome - genetics | Renal Tubular Transport, Inborn Errors - physiopathology | Child | Oculocerebrorenal Syndrome - physiopathology | Glycosuria - physiopathology | Kidney Tubules, Proximal - physiopathology | Phosphoric Monoester Hydrolases - genetics | Glomerular Filtration Rate | Glycosuria - genetics | Europe | Hypercalciuria - physiopathology | Lysosomal Storage Diseases - genetics | Proteinuria - genetics | Proteinuria - physiopathology | Albuminuria - genetics | Phenotype | Nephrocalcinosis - genetics | Hypophosphatemia, Familial - genetics | Adolescent | Hypophosphatemia, Familial - physiopathology | Acidosis, Renal Tubular - physiopathology | Mutation | Hereditary Disease
Journal Article
Neurochemistry International, ISSN 0197-0186, 10/2016, Volume 99, pp. 72 - 84
Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second... 
Succinic semialdehyde dehydrogenase deficiency (SSADHD) | Pathogenic mutations | GHB (4-hydroxybutyric acid) | GWAS | Pathophysiology | Genome wide association study | Oxidative damage | Multifactorial traits | Mitophagy | Polymorphisms | SNP (single nucleotide polymorphism) | Autophagy | Knockout mouse model | GABAergic neurotransmission | GABA (4-aminobutyric acid) | Neurological disease | Crystal structure | GAMMA-HYDROXYBUTYRIC ACID | ALDEHYDE DEHYDROGENASE | NEUROLOGICAL DISORDERS | REDOX-SWITCH MODULATION | OXIDATIVE STRESS | MICE DEFICIENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCES | 4-HYDROXYBUTYRIC ACIDURIA | ALDH5A1 MUTATION | D-2-HYDROXYGLUTARIC ACID | HUMAN-BRAIN | Developmental Disabilities - physiopathology | Developmental Disabilities - metabolism | gamma-Aminobutyric Acid - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Succinate-Semialdehyde Dehydrogenase - genetics | Genetic Association Studies - methods | Developmental Disabilities - genetics | Succinate-Semialdehyde Dehydrogenase - deficiency | Multifactorial Inheritance - physiology | Amino Acid Metabolism, Inborn Errors - metabolism | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Succinate-Semialdehyde Dehydrogenase - metabolism | Analysis | Genes | Epilepsy | Physiological aspects | GABA | Single nucleotide polymorphisms | Gene expression | Medical research | Enzymes | Nervous system diseases | Genomics