serine has been researched along with Amino Acid Metabolism Disorders, Inborn in 75 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Genetic disorders of gamma-aminobutyric acid (GABA), glycine, and serine metabolism and of the GABA and glycine receptors are causes of epilepsy with variable responsiveness to treatment." | 8.81 | Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy. ( Jaeken, J, 2002) |
| "Genetic disorders of gamma-aminobutyric acid (GABA), glycine, and serine metabolism and of the GABA and glycine receptors are causes of epilepsy with variable responsiveness to treatment." | 4.81 | Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy. ( Jaeken, J, 2002) |
| "We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity." | 3.83 | Two new cases of serine deficiency disorders treated with l-serine. ( Bahi-Buisson, N; Boddaert, N; Brassier, A; de Lonlay, P; Desguerre, I; Habarou, F; Hubert, L; Kaminska, A; Ottolenghi, C; Valayannopoulos, V; Van Schaftingen, E; Wiame, E, 2016) |
| "Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism." | 3.69 | 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. ( Carchon, H; Detheux, M; Foulon, M; Jaeken, J; Van Maldergem, L; Van Schaftingen, E, 1996) |
| "Choline treatment did not change brain choline content, and was not associated with clinical or radiological improvement." | 1.30 | One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels. ( Bottiglieri, T; Charles, HC; Gray, L; Hyland, K; Jaeken, J; Kahler, SG; Lazeyras, F; Van Hove, JL; Zeisel, SH, 1998) |
| "All glycine levels were in the normal range." | 1.28 | Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia. ( Boue, J; Kamoun, P; Parvy, P; Rabier, D; Saudubray, JM, 1990) |
| "Glycine content was two to four times above normal in several brain regions, and brain glycine cleavage enzyme activity was absent in two patients dying of nonketotic hyperglycinemia." | 1.25 | Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain. ( Applegarth, DA; Davidson, GF; Evans, ME; Hansen, S; Lock, JE; MacLean, J; MacLeod, PJ; Perry, TL; Urquhart, N, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 47 (62.67) | 18.7374 |
| 1990's | 9 (12.00) | 18.2507 |
| 2000's | 7 (9.33) | 29.6817 |
| 2010's | 10 (13.33) | 24.3611 |
| 2020's | 2 (2.67) | 2.80 |
| Authors | Studies |
|---|---|
| Holeček, M | 1 |
| Anzmann, AF | 1 |
| Pinto, S | 1 |
| Busa, V | 1 |
| Carlson, J | 1 |
| McRitchie, S | 1 |
| Sumner, S | 1 |
| Pandey, A | 1 |
| Vernon, HJ | 2 |
| Stipanuk, MH | 1 |
| de Koning, TJ | 6 |
| Ferreira, CR | 1 |
| Goorden, SMI | 1 |
| Soldatos, A | 1 |
| Byers, HM | 1 |
| Ghauharali-van der Vlugt, JMM | 1 |
| Beers-Stet, FS | 1 |
| Groden, C | 1 |
| van Karnebeek, CD | 1 |
| Gahl, WA | 1 |
| Vaz, FM | 1 |
| Jiang, X | 1 |
| van der Crabben, SN | 1 |
| Verhoeven-Duif, NM | 1 |
| Brilstra, EH | 1 |
| Van Maldergem, L | 4 |
| Coskun, T | 1 |
| Rubio-Gozalbo, E | 1 |
| Berger, R | 4 |
| Kraoua, I | 1 |
| Wiame, E | 4 |
| Kraoua, L | 1 |
| Nasrallah, F | 1 |
| Benrhouma, H | 1 |
| Rouissi, A | 1 |
| Turki, I | 1 |
| Chaabouni, H | 1 |
| Briand, G | 1 |
| Kaabachi, N | 1 |
| Van Schaftingen, E | 6 |
| Gouider-Khouja, N | 1 |
| Esaki, K | 1 |
| Sayano, T | 1 |
| Sonoda, C | 1 |
| Akagi, T | 1 |
| Suzuki, T | 1 |
| Ogawa, T | 1 |
| Okamoto, M | 1 |
| Yoshikawa, T | 1 |
| Hirabayashi, Y | 1 |
| Furuya, S | 1 |
| Brassier, A | 1 |
| Valayannopoulos, V | 1 |
| Bahi-Buisson, N | 1 |
| Hubert, L | 1 |
| Boddaert, N | 1 |
| Kaminska, A | 1 |
| Habarou, F | 1 |
| Desguerre, I | 1 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
| Tabatabaie, L | 1 |
| Klomp, LW | 3 |
| Méneret, A | 1 |
| Marelli, C | 1 |
| Lenglet, T | 1 |
| Sedel, F | 1 |
| Srivastava, D | 1 |
| Singh, RK | 1 |
| Moxley, MA | 1 |
| Henzl, MT | 1 |
| Becker, DF | 1 |
| Tanner, JJ | 1 |
| Snell, K | 1 |
| Duran, M | 2 |
| Poll-The, BT | 2 |
| Surtees, R | 1 |
| Jaeken, J | 6 |
| TADA, K | 6 |
| ANDO, T | 6 |
| DINGMAN, HF | 1 |
| WRIGHT, SW | 1 |
| NYHAN, WL | 7 |
| CHILDS, B | 1 |
| Bliksrud, YT | 1 |
| Brodtkorb, E | 1 |
| Andresen, PA | 1 |
| van den Berg, IE | 2 |
| Kvittingen, EA | 1 |
| Feksa, LR | 1 |
| Cornelio, A | 1 |
| Dutra-Filho, CS | 1 |
| Wyse, AT | 1 |
| Wajner, M | 1 |
| Wannmacher, CM | 1 |
| Hart, CE | 1 |
| Race, V | 1 |
| Achouri, Y | 1 |
| Sharrard, M | 1 |
| Olpin, SE | 1 |
| Watkinson, J | 1 |
| Bonham, JR | 1 |
| Matthijs, G | 1 |
| Shih, VE | 2 |
| Efron, ML | 1 |
| Mechanic, GL | 1 |
| Kang, ES | 1 |
| Seyer, J | 1 |
| Todd, TA | 1 |
| Herrera, C | 1 |
| Benevenga, NJ | 1 |
| Steele, RD | 1 |
| Langan, TJ | 1 |
| Pueschel, SM | 1 |
| Mesavage, C | 1 |
| Nance, CS | 1 |
| Flannery, DB | 1 |
| Weiner, DL | 1 |
| Suchy, SF | 1 |
| Wolf, B | 1 |
| von Wendt, L | 1 |
| Similä, S | 1 |
| Ruokonen, A | 1 |
| Hartikainen-Sorri, AL | 1 |
| Kølvraa, S | 1 |
| Gregersen, N | 1 |
| Christensen, E | 1 |
| Trauner, DA | 1 |
| Page, T | 1 |
| Greco, C | 1 |
| Sweetman, L | 2 |
| Kulovich, S | 1 |
| Evered, DF | 1 |
| Wellner, D | 1 |
| Meister, A | 1 |
| García-Castro, JM | 1 |
| Isales-Forsythe, CM | 1 |
| Levy, HL | 3 |
| Laó-Vélez, CR | 1 |
| González-Ríos, MD | 1 |
| Reyes de Torres, LC | 1 |
| Mendelson, IS | 1 |
| Zhao, G | 1 |
| Winkler, ME | 1 |
| Detheux, M | 2 |
| Frijns, JP | 1 |
| Alliet, P | 1 |
| Foulon, M | 2 |
| Carchon, H | 2 |
| Fowler, B | 1 |
| Whitehouse, C | 1 |
| Wenzel, F | 1 |
| Wraith, JE | 1 |
| Van Hove, JL | 1 |
| Lazeyras, F | 1 |
| Zeisel, SH | 1 |
| Bottiglieri, T | 1 |
| Hyland, K | 1 |
| Charles, HC | 1 |
| Gray, L | 1 |
| Kahler, SG | 1 |
| Scherer-Oppliger, T | 1 |
| Leimbacher, W | 1 |
| Blau, N | 1 |
| Thöny, B | 1 |
| van der Westhuizen, BM | 1 |
| Terblanche, SE | 1 |
| Minnie, LJ | 1 |
| Malingré, HE | 1 |
| van Beurden, EA | 1 |
| Brink, M | 1 |
| Opdam, FL | 1 |
| Pineda, M | 1 |
| Bicknell, J | 1 |
| Harris, R | 1 |
| Stern, J | 1 |
| Bank, WJ | 1 |
| Pizer, L | 1 |
| Pfendner, W | 1 |
| Liao, LL | 1 |
| Richardson, KE | 1 |
| Perry, TL | 1 |
| Urquhart, N | 1 |
| MacLean, J | 1 |
| Evans, ME | 1 |
| Hansen, S | 1 |
| Davidson, GF | 1 |
| Applegarth, DA | 2 |
| MacLeod, PJ | 1 |
| Lock, JE | 1 |
| Toone, JR | 1 |
| Parvy, P | 1 |
| Rabier, D | 1 |
| Boue, J | 1 |
| Saudubray, JM | 1 |
| Kamoun, P | 1 |
| Garcia-Muñoz, MJ | 1 |
| Belloque, J | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Sanz, P | 1 |
| Ugarte, M | 1 |
| Smythe, PJ | 1 |
| Ogilvy-Stuart, AL | 1 |
| Hall, MA | 1 |
| Walker, V | 1 |
| Jordá, A | 1 |
| Portolés, M | 1 |
| Bonilla-Musoles, F | 1 |
| Wijburg, FA | 1 |
| de Groot, CJ | 2 |
| Schutgens, RB | 1 |
| Barth, PG | 1 |
| Winther, A | 1 |
| Bundgaard, L | 1 |
| Shaw, KN | 1 |
| Lieberman, E | 1 |
| Koch, R | 1 |
| Donnell, GN | 1 |
| Ionasescu, V | 1 |
| Stegink, L | 1 |
| Mueller, S | 1 |
| Weinstein, M | 1 |
| Reploh, H | 1 |
| Gröbe, H | 1 |
| Diekmann, L | 1 |
| Palm, D | 1 |
| von Bassewitz, DB | 1 |
| Jenett, W | 1 |
| Fleisher, LD | 1 |
| Tallan, HH | 1 |
| Beratis, NG | 1 |
| Hirschhorn, K | 1 |
| Gaull, GE | 1 |
| Tippett, P | 1 |
| Danks, DM | 1 |
| Lee, DJ | 1 |
| Emery, AE | 1 |
| Burt, D | 1 |
| Barkin, E | 1 |
| Narisawa, K | 1 |
| Yoshida, T | 2 |
| Konno, T | 1 |
| Yokoyama, Y | 2 |
| Goulon, M | 1 |
| Escourolle, R | 1 |
| Grosbuis, S | 1 |
| Caldera, R | 1 |
| Nouailhat, F | 1 |
| Barois, A | 1 |
| Baumgartner, R | 1 |
| Troelstra, JA | 1 |
| Hommes, FA | 1 |
| Larbre, F | 1 |
| Hartemann, E | 1 |
| Guibaud, P | 1 |
| Collombel, C | 1 |
| Guerrier, G | 1 |
| Gusev, EI | 1 |
| Wong, PW | 1 |
| Komrower, GM | 1 |
| Schwarz, V | 1 |
| Gerritsen, T | 2 |
| Gong, L | 1 |
| Heiner, DC | 1 |
| Bray, PF | 1 |
| Sato, T | 1 |
| Nakagawa, H | 1 |
| Berge, T | 1 |
| Borgfors, N | 1 |
| Brun, A | 1 |
| von Studnitz, W | 1 |
| Maskaleris, ML | 1 |
| Gross, S | 1 |
| Milhorat, AT | 1 |
| Rehberg, ML | 1 |
12 reviews available for serine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Serine Metabolism in Health and Disease and as a Conditionally Essential Amino Acid.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Humans; Phospholipids; Serine; Sphingo | 2022 |
Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cystathionine beta-Synthase; Cysteine; G | 2020 |
Amino acid synthesis deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Bra | 2017 |
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Mal | 2013 |
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic, Inborn; Central Ner | 2010 |
L-serine in disease and development.
Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System; Gluconeogenesis; Humans; Serine | 2003 |
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Topics: Amino Acid Metabolism, Inborn Errors; Epilepsy; Female; gamma-Aminobutyric Acid; Glycine; Humans; In | 2002 |
Serine-deficiency syndromes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Carbohydrate | 2004 |
Adverse effects of excessive consumption of amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Ani | 1984 |
Nonketotic hyperglycinemia: clinical, biochemical, and therapeutic considerations.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Biological Transport; Brain; Carboxy-Lyase | 1983 |
Advances in amino acid metabolism in mammals.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Amino Acids; Animals; Bio | 1981 |
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport | 1981 |
63 other studies available for serine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; HEK293 Cells; Humans; Metabolome | 2019 |
Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Child; Female; | 2018 |
An update on serine deficiency disorders.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; In | 2013 |
L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Cells, Cultured; Female; Gene Knockou | 2015 |
Two new cases of serine deficiency disorders treated with l-serine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Ch | 2016 |
A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
Topics: Administration, Oral; Adult; Amino Acid Metabolism, Inborn Errors; Charcot-Marie-Tooth Disease; DNA | 2012 |
The three-dimensional structural basis of type II hyperprolinemia.
Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid S | 2012 |
IDIOPATHIC HYPERGLYCINEMIA; A POSSIBILITY OF HETEROZYGOSITY IN THE PARENTS.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Body Fluids; Genetics, Medical; Glycine; Humans; Infant | 1964 |
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp | 1964 |
HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Child; Chromatography; Glycine; Humans; In | 1964 |
CONGENITAL HYPERGLYCINEMIA; DEMONSTRATION OF A MINOR METABOLIC DEFECT IN THE PARENTS.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Blood Chemical Analysis; Buffers; C | 1965 |
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Cloning, Molecular; Codon; D | 2005 |
The effects of the interactions between amino acids on pyruvate kinase activity from the brain cortex of young rats.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Binding Sites; Brain Diseases, Metabolic | 2005 |
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Brain; Child, Preschool; D | 2007 |
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; C | 1967 |
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genetic Variation; Glycine; H | 1983 |
Glycine/serine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Glycine; Humans; Pr | 1983 |
Problems of prenatal diagnosis of non-ketotic hyperglycinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Female; Fetal Diseases; Glycine | 1983 |
In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Child, Preschool; Diet; Fructose; | 1984 |
Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Cerebral Cortex; Female; Glyc | 1981 |
Prenatal diagnosis of nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Glycine; Heterozygote; Homozygote; Hum | 1982 |
Prenatal diagnosis of glycine encephalopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Brain Diseases, Metabolic; Female; Glycine; Hu | 1982 |
A strategy for glycine encephalopathy therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Aminomethyltransferase; Animals; B | 1982 |
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Enzyme I | 1996 |
3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carbohydrate Dehydrogenases; Child; Chromosome | 1996 |
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Fibroblasts; Glycine; Humans; Inf | 1996 |
Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Cel | 1997 |
One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Brain Diseases; Choline; Coma; Female; Glycine; | 1998 |
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
Topics: Alkaloids; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Carbazoles; Consensus | 1999 |
Benzoylserine and benzoylthreonine in propionic acidaemia treated with sodium benzoate.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Mass Spectrometry; Propionates; Serine; Sodium | 1999 |
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; B | 2000 |
Non-ketotic hyperglycinaemia in a family with an unusual phenotype.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Female; Glycine; Humans; Male; Phenotype; | 1978 |
Glycine metabolism and spinal cord disorders.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Ataxia; Cats; Cells, Cultured; Chi | 1978 |
The synthesis of oxylate from hydroxypyruvate by isolated perfused rat liver. The mechanism of hyperoxaluria in L-glyceric aciduria.
Topics: Acetaldehyde; Amino Acid Metabolism, Inborn Errors; Animals; Ethanolamines; Glyceric Acids; Glycine; | 1978 |
Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Chemistry; Child; Female; Glycine; Humans; | 1975 |
Prenatal diagnosis of non-ketotic hyperglycinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Aminomethyltransferase; Amniotic Fluid; Chorionic Villi; Femal | 1992 |
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; False Negative Reactions; Female; Glycine; Hum | 1990 |
Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Glycine; Humans; Pregnancy; Pregnancy | 1989 |
Prenatal diagnosis of non-ketotic hyperglycinaemia:amniotic fluid glycine and glycine:serine ratios.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gestational Age; Glycine; Humans; Preg | 1987 |
Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Genetic Carrier Screening; Glycine; Humans; Infant, Ne | 1987 |
Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Glycine; Glycine Dehydrogenase (De | 1988 |
Argininosuccinic aciduria in hereditary hair diseases.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Prescho | 1968 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschoo | 1967 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; G | 1973 |
The clinical findings in a patient with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Humans; Infant; Intellectual Disability | 1973 |
Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Cells, Cultured; Fibroblasts; Heterozygote; Homocystei | 1973 |
A block in glycine cleavage reaction as a common mechanism in ketotic and nonketotic hyperglycinemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Child, Preschool; Female; Glyc | 1974 |
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Electrophoresis; Female; Folic | 1974 |
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens | 1972 |
Amino acid, creatine and creatinine studies in myotonic dystrophy.
Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Creatin | 1972 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transp | 1971 |
Hyperglycinemia: a defect in glycine cleavage reaction.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Autoanalysis; Carbohydrates; Carbon Diox | 1969 |
[Endogenous pellagra without hyperaminoaciduria].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Paper; Diagnosi | 1969 |
Nonketotic hyperglycinemia.
Topics: Agranulocytosis; Amino Acid Metabolism, Inborn Errors; Benzoates; Body Weight; Carbon Isotopes; Diet | 1969 |
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Culture Techniques; Diet Th | 1970 |
[Glycinosis with acidocetosis of late revelation and favorable evolution].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Glutamates; Gl | 1970 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Pr | 1967 |
The biosynthesis of cystathionine in patients with homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromato | 1968 |
Metabolism of glycine in the nonketotic form of hyperglycinemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Child; Child, Presc | 1968 |
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Pres | 1968 |
Encephalopathy in combination with a new pattern of aminoaciduria.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Central Nervous System; Chroma | 1969 |
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child | 1969 |
Metabolism of glyoxylate in nonketotic hyperglycinemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Child; Child, Presc | 1969 |