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Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 32 - 32
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2012, Volume 106, Issue 1, pp. 12 - 17
Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport at the basolateral membrane of... 
Lysinuric protein intolerance | Urea cycle disorder | Arginine | Macrophage activation syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | SYSTEMIC-LUPUS-ERYTHEMATOSUS | MACROPHAGES | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMINO-ACID TRANSPORTERS | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | SUPPLEMENTATION | PULMONARY ALVEOLAR PROTEINOSIS | SLC7A7 | BONE-MARROW ABNORMALITIES | GENETICS & HEREDITY | NITRIC-OXIDE | Lung - pathology | Lymphohistiocytosis, Hemophagocytic - pathology | Kidney Diseases - pathology | Large Neutral Amino Acid-Transporter 1 - metabolism | Humans | Urea Cycle Disorders, Inborn - pathology | Immune System - pathology | Large Neutral Amino Acid-Transporter 1 - genetics | Macrophage Activation Syndrome - complications | Urea Cycle Disorders, Inborn - therapy | Lymphohistiocytosis, Hemophagocytic - complications | Urea Cycle Disorders, Inborn - complications | Lysine - genetics | Immune System - metabolism | Macrophage Activation Syndrome - pathology | Urea Cycle Disorders, Inborn - genetics | Arginine - genetics | Kidney Diseases - complications | Lysine - metabolism | Macrophage Activation Syndrome - genetics | Macrophage Activation Syndrome - therapy | Arginine - metabolism | Nitrogen oxide | Urea | Lung diseases | Amino acids | Histiocytosis | Macrophages | Kidney | Intolerance | ornithine | Cell activation | Trapping | L-citrulline | Lysine | Nitric oxide | Kidney diseases | Mutation | Alveoli | Low protein diet | citrulline
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 187 - 187
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 02/2011, Volume 157, Issue 1, pp. 45 - 53
The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result... 
argininosuccinic aciduria | nitric oxide | arginine | urea cycle | argininosuccinate lyase | Argininosuccinate lyase | Urea cycle | Argininosuccinic aciduria | Arginine | Nitric oxide | LIVER-TRANSPLANTATION | UREA-CYCLE DISORDERS | ARGININE METABOLISM | BIOCHEMICAL-CHARACTERIZATION | FOLLOW-UP | INBORN-ERRORS | DELTA-CRYSTALLIN | GENETICS & HEREDITY | NITRIC-OXIDE | INTRAGENIC COMPLEMENTATION | PRENATAL-DIAGNOSIS | Hyperammonemia - metabolism | Humans | Arginase - metabolism | Ornithine - genetics | Neonatal Screening | Nitric Oxide Synthase - genetics | Carboxy-Lyases - genetics | Argininosuccinic Aciduria - diagnosis | Arginine - genetics | Hyperammonemia - enzymology | Liver Diseases - enzymology | Carboxy-Lyases - metabolism | Argininosuccinic Acid - metabolism | Infant, Newborn | Hyperammonemia - genetics | Argininosuccinic Aciduria - metabolism | Liver Diseases - genetics | Argininosuccinate Lyase - genetics | Urea Cycle Disorders, Inborn - metabolism | Ornithine - metabolism | Argininosuccinic Aciduria - therapy | Arginase - genetics | Argininosuccinic Aciduria - genetics | Urea Cycle Disorders, Inborn - genetics | Urea Cycle Disorders, Inborn - enzymology | Nitric Oxide Synthase - metabolism | Liver Diseases - metabolism | Arginine - metabolism | Enzymes | Arginine decarboxylase | Excretion | Liver | Proline | Arginase | aciduria | Nitric-oxide synthase | Hereditary diseases | Urea | Prenatal diagnosis | Reviews | hyperammonemia | polyamines | Alkalosis | Argininosuccinate Lyase
Journal Article
Journal Article