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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 231 - 242
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7498, pp. 96 - 100
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2012, Volume 14, Issue 5, pp. 501 - 507
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 | LIVER-TRANSPLANTATION | ARGININE METABOLISM | UREA CYCLE DISORDERS | IDENTIFICATION | HEREDITARY | ACIDURIA | GENETICS & HEREDITY | NITRIC-OXIDE | INTRAGENIC COMPLEMENTATION | CITRULLINEMIA | PRENATAL-DIAGNOSIS | Liver Transplantation | Phenylbutyrates - therapeutic use | Genetic Testing | Humans | Child, Preschool | Infant | Neonatal Screening | Argininosuccinic Aciduria - diagnosis | Argininosuccinic Acid - urine | Hyperammonemia - enzymology | Liver Diseases - enzymology | Argininosuccinic Acid - metabolism | Hypertension - enzymology | Hypertension - genetics | Citrulline - blood | Infant, Newborn | Cognition Disorders - enzymology | Hyperammonemia - genetics | Liver Diseases - genetics | Argininosuccinate Lyase - genetics | Argininosuccinic Aciduria - therapy | Cognition Disorders - genetics | Lipids - therapeutic use | Diet, Protein-Restricted | Argininosuccinic Acid - blood | Argininosuccinic Aciduria - genetics | Fumarates - metabolism | Sodium Benzoate - therapeutic use | Glucose - therapeutic use | Arginine - therapeutic use | Arginine - metabolism | Urine | Enzymes | Intravenous administration | Liver diseases | Liver | Cognition | Transplantation | Glucose | Metabolism | Nitrogen | Genetic screening | Argininosuccinate lyase | Dietary restrictions | Urea | Arginine | hyperammonemia | Wastes | citrulline | Genotypes | Argininosuccinic aciduria | Argininosuccinate Lyase
Journal Article
American Journal of Pathology, ISSN 0002-9440, 10/2013, Volume 183, Issue 4, pp. 1169 - 1182
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
Neurology, ISSN 0028-3878, 02/2017, Volume 88, Issue 6, pp. 533 - 542
Objective: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. Methods:... 
MULTIPLE-SCLEROSIS | HEREDITARY | METABOLISM | SERINE PALMITOYLTRANSFERASE | DISEASE | MUTATIONS | MUSCULAR-ATROPHY | TRANSFER-RNA SYNTHETASES | DROSOPHILA | CLINICAL NEUROLOGY | FEATURES | 181
Journal Article
Cardiovascular Research, ISSN 0008-6363, 06/2010, Volume 86, Issue 3, pp. 487 - 495
Cystathionine gamma-lyase (CSE)-derived H2S plays an important role in regulating cell growth. Lack of CSE expression results in development of hypertension.... 
Hydrogen sulfide | Hypertension | Smooth muscle cell | Cystathionine gamma-lyase | Apoptosis | CARDIAC & CARDIOVASCULAR SYSTEMS | SPONTANEOUSLY HYPERTENSIVE-RATS | RECEPTOR-LIKE-RECEPTOR | H2S | PROLIFERATION | HYDROGEN-SULFIDE | VASORELAXANT | GROWTH-FACTOR | GENETIC-HYPERTENSION | EXPRESSION | Cyclin D1 - metabolism | Phosphorylation | Oligonucleotide Array Sequence Analysis | Myocytes, Smooth Muscle - pathology | Mesenteric Arteries - pathology | Male | Receptors, Calcitonin - genetics | Calcitonin Receptor-Like Protein | RNA, Messenger - metabolism | Time Factors | Polymerase Chain Reaction | Cyclin-Dependent Kinase Inhibitor p21 - metabolism | Cystathionine gamma-Lyase - genetics | Myocytes, Smooth Muscle - drug effects | Aorta - enzymology | Cystathionine gamma-Lyase - deficiency | Muscle, Smooth, Vascular - drug effects | Hydrogen Sulfide - pharmacology | Myocytes, Smooth Muscle - enzymology | Mice, Inbred C57BL | Cells, Cultured | Intercellular Signaling Peptides and Proteins - genetics | Gene Expression Profiling - methods | Blotting, Western | Mice, Knockout | Aorta - pathology | Heparin-binding EGF-like Growth Factor | Muscle, Smooth, Vascular - pathology | Animals | Mitogen-Activated Protein Kinase 3 - metabolism | Cell Proliferation - drug effects | Mice | Integrin beta1 - genetics | Mesenteric Arteries - enzymology | Muscle, Smooth, Vascular - enzymology | Mitogen-Activated Protein Kinase 1 - metabolism
Journal Article
Antioxidants & Redox Signaling, ISSN 1523-0864, 01/2014, Volume 20, Issue 2, pp. 24 - 216
Journal Article