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Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2017, Volume 122, Issue 1-2, pp. 135 - 142
Journal Article
BMC Plant Biology, ISSN 1471-2229, 10/2012, Volume 12, Issue 1, pp. 189 - 189
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 609 - 620
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | NEU-LAXOVA SYNDROME | ASPARAGINE SYNTHETASE DEFICIENCY | GLUTAMINE DEFICIENCY | INBORN-ERRORS | INTELLECTUAL DISABILITY | CUTIS LAXA | MUTATIONS CAUSE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DISORDER | SERINE DEFICIENCY | Asparagine - deficiency | Limb Deformities, Congenital - genetics | Glutamine - deficiency | Central Nervous System - metabolism | Microcephaly - genetics | Humans | Brain Diseases - genetics | Serine - deficiency | Fetal Growth Retardation - genetics | Amino Acids - deficiency | Amino Acids - biosynthesis | Amino Acid Metabolism, Inborn Errors - diagnosis | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Ichthyosis - genetics | Metabolic Diseases - genetics | High-Throughput Nucleotide Sequencing | Mice | Proline - deficiency | Abnormalities, Multiple - genetics | Proline | Amino acids | Synthesis | Metabolites | Glutamine | Inborn errors of metabolism | Serine | Central nervous system | Nervous system | Metabolism | Polyneuropathy | Defects | Ichthyosis | Body fluids | Paraplegia | Microencephaly | Magnetic resonance imaging | Asparagine | Metabolic pathways | Children | Spastic paraplegia | Erythema | Seizures | Ssiem 2016
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2019, Volume 116, Issue 13, pp. 6313 - 6318
Journal Article
Journal Article
CASE REPORT - Ornithine transcarbamylase deficiency in a girl with hyperkinetic behaviour, 04/2004
Congenital ornithine transcarbamylase deficiency (OTCD, OMIM 311250, Xp21.1) in humans results in hyperammonaemia with subsequent neurological symptoms... 
Neurology | Pediatrics | pn04019 ornithine transcarbamylase deficiency, hyperammonaemia, encephalopathy, glutamine, MR-spectroscopy
Journal
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 1030 - 1039
Murine succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with high concentrations of γ‐aminobutyric acid (GABA) and γ‐hydroxybutyrate (GHB) and... 
GHB | GABA | dried bloodspots | knockout mice | glutamine | dietary supplementation | MEDICINE, RESEARCH & EXPERIMENTAL | SSADH DEFICIENCY | RAT | MICE DEFICIENT | ISOTOPE-DILUTION ANALYSIS | TRANSPORT | SEIZURES | AMINO-ACIDS | GLUCOSE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | BRAIN
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 09/2017, Volume 142, Issue 5, pp. 767 - 775
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 297 - 300
Journal Article
Journal Article