glycine has been researched along with Metabolism, Inborn Errors in 106 studies
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Acyl glycines are normally minor metabolites of fatty acids; however, the excretion of certain acyl glycines is increased in several inborn errors of metabolism." | 7.69 | Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism. ( Bonham Carter, SM; Logan, RW; Midgley, JM; Watson, DG, 1996) |
| "We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia." | 7.67 | Nonketotic hyperglycinemia in a patient with the 9p- syndrome. ( Bensen, J; Block, SM; Burton, BK; Pettenati, MJ; Roach, ES, 1989) |
| "THE CONCEPT OF AN ABNORMALITY OF GLUTAMINE METABOLISM IN PRIMARY GOUT WAS FIRST PROPOSED ON THE BASIS OF ISOTOPE DATA: when [(15)N]glycine was administered to gouty subjects, there was disproportionately great enrichment of N-(3 + 9) of uric acid, which derive from the amide-N of glutamine." | 7.65 | The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout. ( Sperling, O; Starmer, CF; Wyngaarden, JB, 1973) |
| " The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD)." | 3.88 | A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry. ( Al-Dirbashi, OY; Chakraborty, P; Davies, C; Fisher, L; Lepage, N; Ten Brink, HJ, 2018) |
| "Urinary organic acids, plasma amino acids and acylcarnitine profile analyses are the main tools used to diagnose inborn errors of metabolisms (IEMs)." | 3.78 | Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese. ( Fong, BM; Leung, KS; Tam, S, 2012) |
| "We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism." | 3.74 | Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( Arias, A; Artuch, R; Briones, P; Campistol, J; Corbella, M; Fons, C; García-Villoria, J; Ormazabal, A; Pàmpols, T; Pineda, M; Poo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA, 2007) |
| "The determination of organic acids and glycine conjugates in urine is key for the diagnosis and follow-up of several inborn errors of metabolism (IEM)." | 3.71 | Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. ( Duez, P; Kumps, A; Mardens, Y, 2002) |
| "Acyl glycines are normally minor metabolites of fatty acids; however, the excretion of certain acyl glycines is increased in several inborn errors of metabolism." | 3.69 | Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism. ( Bonham Carter, SM; Logan, RW; Midgley, JM; Watson, DG, 1996) |
| "We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia." | 3.67 | Nonketotic hyperglycinemia in a patient with the 9p- syndrome. ( Bensen, J; Block, SM; Burton, BK; Pettenati, MJ; Roach, ES, 1989) |
| "The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins." | 3.66 | [Vitamin-B12-dependent methylmalonic acidemia in twins]. ( Hansen, HG; Heuer, R; Karsten, J; Kneer, J; Wulff, UC, 1983) |
| " The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria." | 3.66 | [Human fibroblast bank for studying amino acid disorders and organic acidemias]. ( del Valle, JA; Merinero, B; Pérez-Cerdá, C; Ugarte, M, 1982) |
| "THE CONCEPT OF AN ABNORMALITY OF GLUTAMINE METABOLISM IN PRIMARY GOUT WAS FIRST PROPOSED ON THE BASIS OF ISOTOPE DATA: when [(15)N]glycine was administered to gouty subjects, there was disproportionately great enrichment of N-(3 + 9) of uric acid, which derive from the amide-N of glutamine." | 3.65 | The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout. ( Sperling, O; Starmer, CF; Wyngaarden, JB, 1973) |
| "Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2." | 3.65 | Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Sorensen, LB, 1970) |
| " An adverse effect of high-dose serine therapy on head growth and on the transport of neutral amino acids across the blood-brain barrier should be considered and requires adjustment of treatment." | 1.31 | Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. ( Häusler, MG; Jaeken, J; Mönch, E; Ramaekers, VT, 2001) |
| "Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Ohtahara syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalized epilepsy." | 1.30 | [Early infantile epileptic encephalopathy and glycine encephalopathy]. ( Carratalà, F; González de Dios, J; Izura, V; Moya, M; Pastore, C, 1997) |
| "Dextromethorphan was added to the regimen on day 12." | 1.28 | Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. ( Francomano, CA; Hamosh, A; Johnston, MV; McDonald, JW; Niedermeyer, E; Valle, D, 1992) |
| "Glycine was found to be a competitive inhibitor of valine uptake, with a Ki of 4." | 1.25 | Studies on the valine sensitivity in non-ketotic hyperglycinemia. ( de Groot, CJ; Hommes, FA; van den Berg, H, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 60 (56.60) | 18.7374 |
| 1990's | 20 (18.87) | 18.2507 |
| 2000's | 15 (14.15) | 29.6817 |
| 2010's | 10 (9.43) | 24.3611 |
| 2020's | 1 (0.94) | 2.80 |
| Authors | Studies |
|---|---|
| Lotta, LA | 1 |
| Pietzner, M | 1 |
| Stewart, ID | 1 |
| Wittemans, LBL | 1 |
| Li, C | 1 |
| Bonelli, R | 1 |
| Raffler, J | 1 |
| Biggs, EK | 1 |
| Oliver-Williams, C | 1 |
| Auyeung, VPW | 1 |
| Luan, J | 1 |
| Wheeler, E | 1 |
| Paige, E | 1 |
| Surendran, P | 1 |
| Michelotti, GA | 1 |
| Scott, RA | 1 |
| Burgess, S | 1 |
| Zuber, V | 1 |
| Sanderson, E | 1 |
| Koulman, A | 1 |
| Imamura, F | 1 |
| Forouhi, NG | 1 |
| Khaw, KT | 1 |
| Griffin, JL | 1 |
| Wood, AM | 1 |
| Kastenmüller, G | 1 |
| Danesh, J | 1 |
| Butterworth, AS | 1 |
| Gribble, FM | 1 |
| Reimann, F | 1 |
| Bahlo, M | 1 |
| Fauman, E | 1 |
| Wareham, NJ | 1 |
| Langenberg, C | 1 |
| Fisher, L | 2 |
| Davies, C | 1 |
| Al-Dirbashi, OY | 1 |
| Ten Brink, HJ | 1 |
| Chakraborty, P | 1 |
| Lepage, N | 1 |
| Almannai, M | 1 |
| El-Hattab, AW | 1 |
| Pitt, JJ | 1 |
| Tzanakos, N | 1 |
| Nguyen, T | 1 |
| Demirkan, A | 1 |
| Henneman, P | 1 |
| Verhoeven, A | 1 |
| Dharuri, H | 1 |
| Amin, N | 1 |
| van Klinken, JB | 1 |
| Karssen, LC | 1 |
| de Vries, B | 1 |
| Meissner, A | 1 |
| Göraler, S | 1 |
| van den Maagdenberg, AM | 1 |
| Deelder, AM | 1 |
| C 't Hoen, PA | 1 |
| van Duijn, CM | 1 |
| van Dijk, KW | 1 |
| Donazzolo, E | 1 |
| Gucciardi, A | 1 |
| Mazzier, D | 1 |
| Peggion, C | 1 |
| Pirillo, P | 1 |
| Naturale, M | 1 |
| Moretto, A | 1 |
| Giordano, G | 1 |
| Koene, S | 1 |
| Kluijtmans, LAJ | 1 |
| Wevers, R | 1 |
| Mock, D | 1 |
| Pasch, M | 1 |
| Morava, E | 1 |
| Solano, AF | 1 |
| Leipnitz, G | 1 |
| De Bortoli, GM | 1 |
| Seminotti, B | 1 |
| Amaral, AU | 1 |
| Fernandes, CG | 1 |
| Latini, AS | 1 |
| Dutra-Filho, CS | 1 |
| Wajner, M | 1 |
| Poo, JL | 1 |
| Cervera, E | 1 |
| de Hoyos, A | 1 |
| Gil, S | 1 |
| Cadena, M | 1 |
| Uribe, M | 1 |
| Walker, V | 1 |
| Mills, GA | 1 |
| Shigematsu, Y | 1 |
| Hata, I | 1 |
| Tajima, G | 1 |
| la Marca, G | 1 |
| Rizzo, C | 1 |
| Ombrone, D | 1 |
| Salvatore, F | 1 |
| Ruoppolo, M | 1 |
| Mercimek-Mahmutoglu, S | 2 |
| Dunbar, M | 1 |
| Friesen, A | 1 |
| Garret, S | 1 |
| Hartnett, C | 1 |
| Huh, L | 1 |
| Sinclair, G | 1 |
| Stockler, S | 1 |
| Wellington, S | 1 |
| Pouwels, PJ | 1 |
| Salomons, GS | 3 |
| Jakobs, C | 2 |
| Fong, BM | 1 |
| Tam, S | 1 |
| Leung, KS | 1 |
| Stromberger, C | 1 |
| Bodamer, OA | 1 |
| Stöckler-Ipsiroglu, S | 2 |
| NYHAN, WL | 6 |
| CHILDS, B | 1 |
| Renema, WK | 1 |
| Schmidt, A | 1 |
| van Asten, JJ | 1 |
| Oerlemans, F | 1 |
| Ullrich, K | 1 |
| Wieringa, B | 1 |
| Isbrandt, D | 1 |
| Heerschap, A | 1 |
| Baykal, T | 1 |
| Gokcay, GH | 1 |
| Ince, Z | 1 |
| Dantas, MF | 1 |
| Fowler, B | 1 |
| Baumgartner, MR | 2 |
| Demir, F | 1 |
| Can, G | 1 |
| Demirkol, M | 1 |
| Stoeckler-Ipsiroglu, S | 1 |
| Adami, A | 1 |
| Appleton, R | 1 |
| Araújo, HC | 1 |
| Duran, M | 2 |
| Ensenauer, R | 1 |
| Fernandez-Alvarez, E | 1 |
| Garcia, P | 1 |
| Grolik, C | 1 |
| Item, CB | 1 |
| Leuzzi, V | 2 |
| Marquardt, I | 1 |
| Mühl, A | 2 |
| Saelke-Kellermann, RA | 1 |
| Schulze, A | 3 |
| Surtees, R | 1 |
| van der Knaap, MS | 1 |
| Vasconcelos, R | 1 |
| Verhoeven, NM | 1 |
| Vilarinho, L | 1 |
| Wilichowski, E | 1 |
| Arias, A | 1 |
| Corbella, M | 1 |
| Fons, C | 1 |
| Sempere, A | 1 |
| García-Villoria, J | 1 |
| Ormazabal, A | 1 |
| Poo, P | 1 |
| Pineda, M | 1 |
| Vilaseca, MA | 1 |
| Campistol, J | 1 |
| Briones, P | 1 |
| Pàmpols, T | 1 |
| Ribes, A | 1 |
| Artuch, R | 1 |
| Wolfe, LA | 1 |
| Finegold, DN | 1 |
| Vockley, J | 1 |
| Walters, N | 1 |
| Chambaz, C | 1 |
| Suormala, T | 1 |
| Koch, HG | 1 |
| Matern, D | 1 |
| Barshop, BA | 2 |
| Cropcho, LJ | 1 |
| Gibson, KM | 1 |
| Young, S | 1 |
| Struys, E | 1 |
| Wood, T | 1 |
| Marstein, S | 1 |
| Perry, TL | 1 |
| Flannery, DB | 1 |
| Pellock, J | 1 |
| Bousounis, D | 1 |
| Hunt, P | 1 |
| Nance, C | 1 |
| Wolf, B | 1 |
| Aicardi, J | 1 |
| Karsten, J | 1 |
| Hansen, HG | 1 |
| Heuer, R | 1 |
| Wulff, UC | 1 |
| Kneer, J | 1 |
| del Valle, JA | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Ugarte, M | 1 |
| Schutgens, RB | 1 |
| Middleton, B | 1 |
| vd Blij, JF | 1 |
| Oorthuys, JW | 1 |
| Veder, HA | 1 |
| Vulsma, T | 1 |
| Tegelaers, WH | 1 |
| Tuchman, M | 1 |
| Berry, SA | 1 |
| Thuy, LP | 1 |
| Leung, RK | 1 |
| Mayatepek, E | 2 |
| Rating, D | 2 |
| Bremer, HJ | 1 |
| Bonham Carter, SM | 1 |
| Watson, DG | 1 |
| Midgley, JM | 1 |
| Logan, RW | 1 |
| González de Dios, J | 1 |
| Moya, M | 1 |
| Pastore, C | 1 |
| Izura, V | 1 |
| Carratalà, F | 1 |
| Nowaczyk, MJ | 1 |
| Lehotay, DC | 1 |
| Platt, BA | 1 |
| Tan, R | 1 |
| Phillips, H | 1 |
| Clarke, JT | 1 |
| Bachert, P | 1 |
| Marescau, B | 1 |
| De Deyn, PP | 1 |
| de Koning, TJ | 1 |
| Poll-The, BT | 1 |
| Jaeken, J | 2 |
| Lu, FL | 1 |
| Wang, PJ | 1 |
| Hwu, WL | 1 |
| Tsou Yau, KI | 1 |
| Wang, TR | 1 |
| Rite Gracia, S | 1 |
| Guallarte Alias, MP | 1 |
| Martínez Moral, M | 1 |
| Baldellou Vázquez, A | 1 |
| Rite Montañés, S | 1 |
| Ruiz-Echarri Zalaya, MP | 1 |
| Marco Tello, A | 1 |
| Rebage Moisés, V | 1 |
| Ilas, J | 1 |
| Bonafé, L | 1 |
| Troxler, H | 1 |
| Kuster, T | 1 |
| Heizmann, CW | 1 |
| Chamoles, NA | 1 |
| Burlina, AB | 1 |
| Blau, N | 1 |
| Carducci, C | 2 |
| Prudente, S | 1 |
| Mercuri, L | 1 |
| Antonozzi, I | 1 |
| Häusler, MG | 1 |
| Mönch, E | 1 |
| Ramaekers, VT | 1 |
| Kumps, A | 1 |
| Duez, P | 1 |
| Mardens, Y | 1 |
| Revsin, B | 1 |
| Lebowitz, J | 1 |
| Morrow, G | 1 |
| Meister, A | 1 |
| Brown, GK | 1 |
| Stokke, O | 5 |
| Jellum, E | 4 |
| Wysocki, SJ | 1 |
| Hähnel, R | 1 |
| Krízek, V | 1 |
| Brady, RO | 1 |
| Omenn, GS | 1 |
| Erbe, RW | 1 |
| de Groot, CJ | 1 |
| van den Berg, H | 1 |
| Hommes, FA | 1 |
| Stern, J | 2 |
| Elleau, C | 1 |
| Parrot-Roulaud, F | 1 |
| Perel, Y | 1 |
| Divry, P | 1 |
| Rolland, MO | 1 |
| Zabot, MT | 1 |
| Middleton, R | 1 |
| Guillard, JM | 1 |
| Hamosh, A | 1 |
| McDonald, JW | 1 |
| Valle, D | 2 |
| Francomano, CA | 1 |
| Niedermeyer, E | 1 |
| Johnston, MV | 1 |
| Indo, Y | 2 |
| Glassberg, R | 2 |
| Yokota, I | 2 |
| Tanaka, K | 2 |
| Antoshechkin, AG | 1 |
| Seriogina, IA | 1 |
| Maximova, LA | 1 |
| Dumez, Y | 1 |
| Dommergues, M | 1 |
| Lyonnet, S | 1 |
| Tada, K | 5 |
| Kaplan, J | 1 |
| Mandelbrot, L | 1 |
| Pesce, F | 1 |
| Cerone, R | 1 |
| Caruso, U | 1 |
| Romano, C | 1 |
| Rinaldo, P | 1 |
| Welch, RD | 1 |
| Previs, SF | 1 |
| Schmidt-Sommerfeld, E | 1 |
| Gargus, JJ | 1 |
| O'Shea, JJ | 1 |
| Zinn, AB | 1 |
| van Vossen, R | 1 |
| Bruinvis, L | 1 |
| Ketting, D | 1 |
| Dorland, L | 1 |
| de Klerk, JB | 1 |
| Singer, HS | 1 |
| Hayasaka, K | 3 |
| Breuer, J | 1 |
| Holm, J | 1 |
| Leslie, J | 1 |
| Aikawa, J | 1 |
| Igarashi, Y | 1 |
| Narisawa, K | 1 |
| Owada, M | 1 |
| Kitagawa, T | 1 |
| Burton, BK | 1 |
| Pettenati, MJ | 1 |
| Block, SM | 1 |
| Bensen, J | 1 |
| Roach, ES | 1 |
| Hofmann, AF | 1 |
| Strandvik, B | 1 |
| Fueki, N | 1 |
| Nakamura, Y | 1 |
| Schmidt, K | 1 |
| Packman, S | 1 |
| Seashore, MR | 1 |
| Haan, E | 1 |
| Danks, DM | 1 |
| Eldjarn, L | 4 |
| Barnes, ND | 1 |
| Hull, D | 2 |
| Balgobin, L | 1 |
| Gompertz, D | 1 |
| Pande, H | 1 |
| Waaler, PE | 1 |
| Moore, PT | 1 |
| Martin, MC | 1 |
| Coffey, VP | 1 |
| Kelley, WN | 1 |
| Fox, IH | 1 |
| Beardmore, TD | 1 |
| Meade, JC | 1 |
| Sperling, O | 1 |
| Wyngaarden, JB | 1 |
| Starmer, CF | 1 |
| McLean, J | 1 |
| Stewart, G | 1 |
| Lubs, H | 1 |
| Baumann, H | 1 |
| Kluge, G | 1 |
| Machill, G | 1 |
| Brandt, NJ | 1 |
| Brandt, S | 1 |
| Rasmussen, K | 3 |
| Schnoheyder, F | 1 |
| Hagler, L | 1 |
| Herman, RH | 1 |
| Bolton, CE | 1 |
| Emery, AE | 1 |
| Ando, T | 2 |
| Bachmann, C | 1 |
| Scott, R | 1 |
| Smith, EK | 1 |
| Gutman, AB | 1 |
| Yu, TF | 1 |
| Smith, JE | 1 |
| Hillman, RE | 1 |
| Sowers, LH | 1 |
| Cohen, JL | 1 |
| Chalmers, RA | 2 |
| Bickle, S | 1 |
| Watts, RW | 4 |
| Lawson, AM | 1 |
| Palmer, T | 1 |
| Oberholzer, VG | 1 |
| Burgess, EA | 1 |
| Butler, LJ | 1 |
| Levin, B | 1 |
| Hodgkinson, A | 1 |
| Zarembski, PM | 1 |
| Emery, FA | 1 |
| Goldie, L | 1 |
| Thalhammer, O | 1 |
| Scheibenreiter, S | 1 |
| Schön, R | 1 |
| Knoll, E | 1 |
| Schmierer, G | 1 |
| Cottom, D | 1 |
| Kilroy, AW | 1 |
| Wadlington, W | 1 |
| Halvorsen, S | 1 |
| Sorensen, LB | 1 |
| van der Zee, SP | 1 |
| Lommen, EJ | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 1 |
| Ghadimi, H | 1 |
| Bhalla, CK | 1 |
| Kirchenbaum, DM | 1 |
| Carton, D | 1 |
| Dhondt, F | 1 |
| De Schrijver, F | 1 |
| Samyn, W | 1 |
| Kint, J | 1 |
| Delbeke, MJ | 1 |
| Hooft, C | 1 |
| Freeman, JM | 1 |
| Nicholson, JF | 1 |
| Schimke, RT | 1 |
| Rowland, LP | 1 |
| Carter, S | 1 |
| Matthews, DM | 1 |
| Manzke, H | 1 |
| Dean, BM | 2 |
| Westwick, WJ | 1 |
| Yoshida, T | 1 |
| Kikuchi, G | 1 |
| Miloszewski, K | 1 |
| Walls, WD | 1 |
| Losowsky, MS | 1 |
| Atkins, GL | 1 |
| Griffin, WJ | 1 |
| Scowen, EF | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Relationship of Spot Urine Oxalate to Creatinine Ratio and 24 Hours Urinary Oxalate Excretion in Patients With Urolithiasis[NCT04571359] | 62 participants (Actual) | Observational [Patient Registry] | 2019-02-01 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
12 reviews available for glycine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.
Topics: Child; Child, Preschool; Coenzymes; Diagnosis, Differential; Epilepsy; Glycine; Humans; Infant; Infa | 2018 |
[Rationale for the use of sodium benzoate in clinical hepatology].
Topics: Acetates; Adult; Animals; Child; Clinical Trials as Topic; Drug Evaluation, Preclinical; Glycine; He | 1990 |
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltr | 2003 |
[Myoclonias as a manifestation of degenerative disorders of the central nervous system in childhood].
Topics: Adolescent; Age Factors; Brain Diseases; Cerebellar Diseases; Ceroid; Child; Child, Preschool; Diagn | 1982 |
Continuing education in neurometabolic disorders--serine deficiency disorders.
Topics: Adolescent; Amino Acids; Child; Deficiency Diseases; Female; Glycine; Humans; Ichthyosis; Male; Meta | 1999 |
Function of glutathione in kidney via the gamma-glutamyl cycle.
Topics: Acyltransferases; Adult; Amino Acids; Animals; Cysteine; Dipeptidases; gamma-Glutamylcyclotransferas | 1975 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter | 1976 |
Inborn errors of folate metabolism (second of two parts).
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Adult; Alcohol Oxidoreductase | 1975 |
Oxalate metabolism. I.
Topics: Animals; Ascorbic Acid; Calcium; Chemical Phenomena; Chemistry; Child, Preschool; Diet; Glycine; Gly | 1973 |
Oxalic acid metabolism in man: a review.
Topics: Ascorbic Acid; Bone and Bones; Calcium; Cell Membrane Permeability; Erythrocytes; Feces; Glycine; Hu | 1968 |
Too much of a good thing.
Topics: Amino Acids; Animals; Blood Pressure; Central Nervous System; Eye Diseases; Food Additives; Glutamat | 1971 |
94 other studies available for glycine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
A cross-platform approach identifies genetic regulators of human metabolism and health.
Topics: Diabetes Mellitus, Type 2; Eye Diseases; Gene Frequency; Genetic Loci; Genetic Pleiotropy; Genome, H | 2021 |
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Topics: Chromatography, High Pressure Liquid; Dried Blood Spot Testing; Female; Glycine; Humans; Infant, New | 2018 |
Newborn screening for guanidinoacetate methyl transferase deficiency.
Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua | 2014 |
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.
Topics: Exome; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Glycine; Humans; Me | 2015 |
Improved synthesis of glycine, taurine and sulfate conjugated bile acids as reference compounds and internal standards for ESI-MS/MS urinary profiling of inborn errors of bile acid synthesis.
Topics: Bile Acids and Salts; Glycine; Humans; Metabolism, Inborn Errors; Molecular Conformation; Spectromet | 2017 |
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
Topics: Abnormalities, Multiple; Aging, Premature; Biotin; Child, Preschool; Developmental Disabilities; Ect | 2008 |
Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats.
Topics: Animals; Cerebral Cortex; Free Radical Scavengers; Glutathione; Glycine; Hemiterpenes; Lipid Peroxid | 2008 |
N-(pyrrole-2-carboxyl) glycine a diagnostic marker of hyperprolinaemia type II: mass spectra of trimethylsilyl derivatives.
Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Biomarkers; Child; Glycine; Humans; Hydroxyproline; Mass Sp | 2009 |
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control | 2010 |
Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS.
Topics: Chromatography, Gas; Chromatography, High Pressure Liquid; Chromatography, Liquid; Creatinine; Femal | 2011 |
Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism.
Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Chromatography, Liquid; Glycine; Humans; | 2011 |
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Topics: Arginine; Child, Preschool; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Inf | 2012 |
Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese.
Topics: 1-Butanol; Acylation; Adolescent; Asian People; Calibration; Carnitine; Child; Child, Preschool; Chr | 2012 |
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 |
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
Topics: Animals; Brain; Brain Chemistry; Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Hindlimb; | 2003 |
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Topics: Carbon-Carbon Ligases; Consanguinity; Diagnosis, Differential; Fatal Outcome; Glycine; Humans; Infan | 2005 |
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Topics: Adolescent; Adult; Child; Creatine; Epilepsy; Female; Glycine; Guanidinoacetate N-Methyltransferase; | 2006 |
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect | 2007 |
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
Topics: Carbon-Carbon Ligases; Child; Diagnostic Errors; Female; Glycine; Humans; Infant; Metabolism, Inborn | 2007 |
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human | 2007 |
Studies of amino acid content and transport in glutathione-deficient erythrocytes from a patient with pyroglutamic acidemia (5-oxoprolinemia).
Topics: Amino Acids; Biological Transport, Active; Erythrocytes; gamma-Glutamyltransferase; Glutathione; Gly | 1981 |
Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia.
Topics: Adolescent; Adult; Age Factors; Female; Glycine; Humans; Intellectual Disability; Male; Metabolism, | 1983 |
[Vitamin-B12-dependent methylmalonic acidemia in twins].
Topics: Acidosis; Diseases in Twins; Glycine; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylma | 1983 |
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Child; Child, Preschool; | 1982 |
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.
Topics: Acetyl-CoA C-Acyltransferase; Acidosis; Acyltransferases; Adult; Child; Fibroblasts; Glycine; Humans | 1982 |
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Topics: Biotin; Carbon-Carbon Ligases; Failure to Thrive; Gastrointestinal Diseases; Glycine; Humans; Infant | 1993 |
Non-ketotic hyperglycinaemia.
Topics: Glycine; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Seizures | 1993 |
Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency.
Topics: Child, Preschool; Chromatography, Thin Layer; Female; Glycine; Guanidinoacetate N-Methyltransferase; | 1996 |
Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism.
Topics: Calibration; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Indicators and Reagents; Metabol | 1996 |
[Early infantile epileptic encephalopathy and glycine encephalopathy].
Topics: Brain Diseases; Electroencephalography; Epilepsy, Generalized; Fatal Outcome; Female; Glycine; Human | 1997 |
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
Topics: Administration, Oral; Brain; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glycine; Humans | 1998 |
Therapeutic trial of arginine restriction in creatine deficiency syndrome.
Topics: Arginine; Child, Preschool; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; | 1998 |
Neonatal type of nonketotic hyperglycinemia.
Topics: Ammonia; Brain; Female; Glycine; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Imaging; M | 1999 |
[Non-ketotic hyperglycinemia: clinical and therapeutic course in three patients].
Topics: Dextromethorphan; Enzyme Inhibitors; Excitatory Amino Acid Antagonists; Female; Food Preservatives; | 1999 |
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
Topics: Amniotic Fluid; Cells, Cultured; Chromatography, High Pressure Liquid; Creatine; Female; Fetal Disea | 2000 |
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amidohydrolases; Biotinidase; Carbon-Nitrogen Ligases; Ch | 2000 |
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
Topics: Base Sequence; Cells, Cultured; Child, Preschool; Chromatography, High Pressure Liquid; Creatine; Cr | 2000 |
Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings.
Topics: Amino Acids; Carbohydrate Dehydrogenases; Cerebrospinal Fluid; Child; Child, Preschool; Dose-Respons | 2001 |
Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table.
Topics: Artifacts; Blood Specimen Collection; Carboxylic Acids; Glycine; Humans; Iatrogenic Disease; Metabol | 2002 |
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Topics: Carboxy-Lyases; Fibroblasts; Glycine; Humans; In Vitro Techniques; Isoleucine; Metabolism, Inborn Er | 1977 |
Chromatographic profile of high boiling point organic acids in human urine.
Topics: Acids; Chromatography, Gas; Cinnamates; Citrates; Glycine; Hippurates; Hot Temperature; Humans; Mass | 1978 |
3-Methylcrotonylglycine excretion in 3-hydroxy-3-methylglutaric aciduria.
Topics: Crotonates; Glutarates; Glycine; Humans; Hydroxy Acids; Infant; Male; Metabolism, Inborn Errors | 1978 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors | 1976 |
Studies on the valine sensitivity in non-ketotic hyperglycinemia.
Topics: Animals; Fatty Acids; Female; Glycine; Humans; Infant, Newborn; Kidney Cortex; Liver; Male; Metaboli | 1975 |
Biochemistry of mental retardation.
Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disabili | 1975 |
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].
Topics: Acetyl-CoA C-Acyltransferase; Female; Glycine; Humans; Infant; Ketosis; Metabolism, Inborn Errors | 1992 |
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.
Topics: Benzoates; Benzoic Acid; Dextromethorphan; Electroencephalography; Glycine; Humans; Infant; Infant, | 1992 |
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II, and identification of glycine substitution for valine 157, producing an unstable mature protein in a patient.
Topics: Blotting, Northern; Electron-Transferring Flavoproteins; Flavoproteins; Genetic Testing; Genetic Var | 1992 |
Identification of 4-methoxybenzoyl-N-glycine in urine by gas chromatography/mass spectrometry.
Topics: Anisoles; Child; Child, Preschool; Gas Chromatography-Mass Spectrometry; Glycine; Hippurates; Humans | 1991 |
First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction.
Topics: Abortion, Therapeutic; Chorionic Villi Sampling; Female; Glycine; Humans; Metabolism, Inborn Errors; | 1991 |
Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria.
Topics: Acidosis; Dietary Proteins; Female; Glycine; Hemiterpenes; Humans; Infant; Ketones; Male; Metabolism | 1991 |
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable matur
Topics: Acidosis; Base Sequence; Blotting, Northern; Cell Line; Electron-Transferring Flavoproteins; Flavopr | 1991 |
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
Topics: Acylation; Adipates; Administration, Oral; Carnitine; Child; Electron-Transferring Flavoproteins; Fa | 1991 |
The fate of orally ingested 3-phenylpropionic acid.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Administration, Oral; Child; Dicarboxyli | 1990 |
Nonketotic hyperglycinemia: studies in an atypical variant.
Topics: Adult; Developmental Disabilities; Glycine; Humans; Intellectual Disability; Ketosis; Male; Metaboli | 1989 |
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Child, Preschool; Female; Gl | 1989 |
A survey on prenatal diagnosis of inherited metabolic diseases in Japan.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Japan; Metabolism, Inborn Errors; Pre | 1989 |
Nonketotic hyperglycinemia in a patient with the 9p- syndrome.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 9; Genes, Recessive; Genetic | 1989 |
Defective bile acid amidation: predicted features of a new inborn error of metabolism.
Topics: Bile Acids and Salts; Biliary Tract; Cholic Acid; Cholic Acids; Glycine; Humans; Intestinal Mucosa; | 1988 |
Nonketotic hyperglycinemia: clinical and metabolic aspects.
Topics: Brain Chemistry; Child, Preschool; Glycine; Humans; Infant; Infant, Newborn; Liver; Metabolism, Inbo | 1987 |
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.
Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; Brain; Carrier Proteins; Glycine; Humans; Hydrox | 1987 |
Application of gas chromatography-mass spectrometry in routine and research in clinical chemistry.
Topics: Acidosis; Adult; Body Fluids; Carbon Dioxide; Chemistry, Clinical; Chromatography, Gas; Clinical Lab | 1974 |
Biotin-responsive propionicacidaemia.
Topics: Acidosis; Biotin; Carboxy-Lyases; Child, Preschool; Chromatography, Gas; Diet Therapy; Glycine; Huma | 1970 |
Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.
Topics: Butyrates; Female; Glycine; Humans; Infant; Metabolism, Inborn Errors | 1970 |
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria | 1972 |
Allopurinol and oxipurinol: alteration of purine and pyrimidine metabolism in cell culture.
Topics: Alcohols; Allopurinol; Azaserine; Carbon Isotopes; Cell Line; Fibroblasts; Formates; Glycine; Guanin | 1971 |
The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout.
Topics: Adenosine Triphosphate; Adolescent; Adult; Carbon Isotopes; Glutamine; Glycine; Gout; Guanine; Hippu | 1973 |
Mitochondrial inclusions in fibroblast culture from a patient with beta-methylcrotonylglycinuria.
Topics: Cells, Cultured; Fibroblasts; Genes, Recessive; Glycine; Humans; Inclusion Bodies; Infant; Ligases; | 1974 |
[Screening test detection of genetic errors of metabolism in children with hearing defects (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Glycine; Hearing Disorders; Humans; Mass S | 1974 |
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism.
Topics: Child, Preschool; Chromatography, Thin Layer; Glyceric Acids; Glycine; Humans; Intellectual Disabili | 1974 |
Combined use of gas chromatography, mass spectrometry, and computer in diagnosis and studies of metabolic disorders.
Topics: Adult; Biopsy; Blood Chemical Analysis; Butyrates; Carbon Dioxide; Chemistry, Clinical; Chromatograp | 1972 |
Myotonic dystrophy: investigation of the proposed defect in guanidoacetic acid synthesis.
Topics: Acetates; Arginine; Glycine; Guanidines; Humans; Kidney Cortex; Metabolism, Inborn Errors; Myotonic | 1972 |
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia.
Topics: Butyrates; Caproates; Child; Chromatography, Gas; Chromatography, Thin Layer; Coenzyme A; Glycine; H | 1973 |
Hyperglutamatemia in primary gout.
Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans | 1973 |
Concentrations of glutathione precursors in erythrocytes of normal and glutathione-deficient sheep.
Topics: Adenosine Triphosphate; Animals; Cysteine; Erythrocytes; Glutamates; Glutathione; Glycine; Hematocri | 1973 |
Inhibition of glycine oxidation in cultured fibroblasts by isoleucine.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cells, Cultured; Fibroblas | 1973 |
A method for the determination of volatile organic acids in aqueous solutions and urine, and the results obtained in propionic acidaemia, beta-methylcrotonylglycinuria and methylmalonic aciduria.
Topics: Acids; Butyrates; Chromatography, Gas; Chromatography, Ion Exchange; Crotonates; Evaluation Studies | 1974 |
Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.
Topics: Butyrates; Chromatography, Gas; Citrates; Computers; Crotonates; Glycine; Isoleucine; Leucine; Malon | 1974 |
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.
Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; | 1974 |
Hyperprolinaemia type 2.
Topics: Adolescent; Chromatography, Paper; Electroencephalography; Epilepsy, Absence; Female; Glycine; Human | 1968 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Th | 1972 |
Excretion of tiglylglycine in propionic acidemia.
Topics: Butyrates; Cells, Cultured; Chromatography, Gas; Coenzyme A; Diet Therapy; Fibroblasts; Glycine; Hum | 1972 |
Abnormal patterns of urine and serum amino acids in methylmalonic acidemia.
Topics: Age Factors; Amino Acids; Body Weight; Chromatography, Paper; Diet Therapy; Electrophoresis; Female; | 1970 |
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adult; Allopurinol; Athetosis; Carbon Isotopes; Child; Chorea; Compulsive Behavior; Deficiency Disea | 1970 |
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Comp | 1970 |
The significance of the deficiency state in Lesch-Nyhan disease.
Topics: Allopurinol; Amino Acids; Athetosis; Carbon Isotopes; Child, Preschool; Chorea; Compulsive Behavior; | 1970 |
Histidinemia.
Topics: Acetates; Acrylates; Adolescent; Alanine; Glycine; Histidine; Humans; Imidazoles; Lactates; Lyases; | 1970 |
Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.
Topics: Amino Acids; Ammonia; Citric Acid Cycle; Female; Glycine; Humans; Infant, Newborn; Metabolism, Inbor | 1970 |
Experimental approach in chemical pathology.
Topics: Adult; Amblyopia; Animals; Biological Transport; Cystinuria; Dipeptides; Female; Glycine; Hartnup Di | 1971 |
[Hyperuricemia with cerebral paresis. Syndrome of a hereditary purine metabolic disorder].
Topics: Adolescent; Anemia, Macrocytic; Cerebral Palsy; Child; Child, Preschool; Glycine; Humans; Hyperlipid | 1967 |
The conversion of [1-13C]glycine and [2-13C]glycine to [13C]oxalate in primary hyperoxaluria: evidence for the existence of more than one metabolic pathway from glycine to oxalate in man.
Topics: Adolescent; Carbon Isotopes; Female; Glycine; Glycolates; Humans; Metabolism, Inborn Errors; Oxalate | 1968 |
Physiological significance of glycine cleavage system in human liver as revealed by the study of a case of hyperglycinemia.
Topics: Adult; Carbon Dioxide; Carbon Isotopes; Female; Folic Acid; Glycine; Humans; Infant; L-Serine Dehydr | 1969 |
Absence of plasma transamidase activity in congenital deficiency of fibrin stabilizing factor (Factor 13).
Topics: Amidohydrolases; Blood Coagulation Disorders; Blood Coagulation Factors; Carbon Isotopes; Caseins; E | 1969 |
Quantitative aspects of ascorbic acid metabolism in patients with primary hyperoxaluria.
Topics: Ascorbic Acid; Child; Child, Preschool; Glycine; Glyoxylates; Humans; In Vitro Techniques; Metabolis | 1965 |