s-adenosylmethionine has been researched along with Amino Acid Metabolism Disorders, Inborn in 51 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (5.88) | 18.7374 |
| 1990's | 3 (5.88) | 18.2507 |
| 2000's | 16 (31.37) | 29.6817 |
| 2010's | 23 (45.10) | 24.3611 |
| 2020's | 6 (11.76) | 2.80 |
| Authors | Studies |
|---|---|
| Afshar, Z; Alaei, MR; Aminzadeh, M; Amirhakimi, A; Dalili, S; Ghasemi, F; Hadipour, F; Hadipour, Z; Ilkhanipoor, H; Inaloo, S; Katibeh, P; Mazloumi, S; Moosavian, T; Moravej, H; Nahid, S; Nasiri, J; Nemati, H; Yazdani, N | 1 |
| Baker, PR; Wright, EL | 1 |
| Arning, E; Ashcraft, P; Bottiglieri, T; Brown, M; Gibson, KM; Jansen, E; Kirby, T; Rinaldo, P; Roullet, JB; Salomons, GS; Turgeon, C; Walters, DC | 1 |
| Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y | 1 |
| Belanger-Quintana, A; Bellusci, M; Bergua Martínez, A; Blanco Soto, P; Cambra Conejero, A; Cañedo Villarroya, E; Chumillas Calzada, S; García Silva, MT; Martín Rivada, Á; Martín-Hernández, E; Martínez Figueras, L; Martínez-Pardo Casanova, M; Moráis López, A; Ortiz Temprado, A; Palomino Pérez, L; Pedrón Giner, C; Pérez González, B; Quijada Fraile, P; Ruano, MLF; Ruiz-Salas, P; Stanescu, S; Ugarte, M | 1 |
| Hoppel, CL; Ingalls, ST; Minkler, PE; Stoll, MSK | 1 |
| da Silva, JM; de Moura Coelho, D; Deon, M; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Janzen, N; Peter, M; Sander, J; Sander, S; Steuerwald, U; Terhardt, M | 1 |
| Gao, X; Gu, X; Han, F; Han, L; Ji, W; Qiu, W; Wang, Y; Ye, J; Zhang, H | 1 |
| Boemer, F; Dayaldasani, A; Rueda, I; Yahyaoui, R | 1 |
| Boneh, A; Morrisy, S; Pitt, J; Tal, G; Tzanakos, N | 1 |
| Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y | 1 |
| Bo, R; Hasegawa, Y; Ishige, N; Kobayashi, H; Nakamura, M; Takahashi, T; Yamada, K; Yamaguchi, S | 1 |
| Hoppel, CL; Ingalls, ST; Kerner, J; Minkler, PE; Stoll, MS | 1 |
| Peake, RW | 1 |
| Arteaga, C; Bermúdez, M; Cifuentes, Y; De la Hoz, I | 1 |
| Andria, G; Catanzano, F; Di Stefano, C; Frisso, G; Nosari, N; Ombrone, D; Parenti, G; Rossi, A; Ruoppolo, M; Salvatore, F; Scolamiero, E; Tandurella, I | 1 |
| Hata, I; Shigematsu, Y; Tajima, G | 1 |
| Fukao, T; Hasegawa, Y; Hori, T; Kobayashi, H; Kondo, N; Takayanagi, M; Teramoto, T; Yamaguchi, S; Yasuno, T | 1 |
| Cowan, TM; Le, A; Moore, T | 1 |
| Burgard, P; Haege, G; Hoffmann, GF; Hörster, F; Kölker, S; Riderer, A; Zwickler, T | 1 |
| Hoffmann, GF; Kohlmüller, D; Lindner, M; Mayatepek, E; Olgemöller, K; Schulze, A | 1 |
| Andresen, BS; Berry, SA; He, M; Lussky, RC; Madsen, PP; Matern, D; Rinaldo, P; van Calcar, SC; Vockley, J; Whitley, CB; Wolff, JA | 1 |
| Chang, YS; Hwang, SJ; Jin, DK; Lee, JE; Paik, KH; Park, WS; Shim, JW; Strauss, AW; Yoon, HR | 1 |
| Fukao, T; Hazama, A; Kohno, Y; Kondo, M; Kondo, N; Kubo, T; Matsuo, N; Sakura, N; Shigematsu, Y; Yamaga, H; Yamaguchi, S; Zhang, GX | 1 |
| Fowler, KJ; Gazeas, S; Ioannou, PA; Kahler, SG; Nefedov, M; Peters, H; Pitt, J; Sarsero, J | 1 |
| Chace, DH; Kalas, TA; Naylor, EW | 1 |
| Lai, CC; Lee, CC; Lin, WD; Tsai, FJ; Wang, CH | 1 |
| Chang, MH; Chen, HL; Chien, YH; Chiu, PC; Hwu, WL; Kobayashi, K; Lee, NC; Ni, YH; Saheki, T | 1 |
| Duran, M; Huidekoper, HH; Schneider, J; Vaz, FM; Westphal, T; Wijburg, FA | 1 |
| Choi, JH; Kim, GH; Park, SJ; Shin, YL; Yoo, HW; Yoon, HR | 1 |
| Durkin, MS; Gleason, LA; Hoffman, G; Lindh, H; Rhead, W; van Calcar, SC; Vockley, G; Wolff, JA | 1 |
| Barshop, BA; Gangoiti, JA; Siuzdak, G; Wikoff, WR | 1 |
| Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, Y; Ye, J; Zhang, YJ | 1 |
| Carpenter, K; Wilcken, B; Wiley, V | 1 |
| Burlingame, TG; Gibson, KM; Hogema, B; Jakobs, C; Kiss, D; Linck, L; Millington, D; Pohowalla, P; Rinaldo, P; Roe, CR; Roe, DS; Sacks, M; Schutgens, RB; Steiner, RD; Sweetman, L; Vockley, J | 1 |
| Abdenur, JE; Bernard, C; Chamoles, NA; Fusta, M; Guinle, A; Jorge, L; Lavorgna, S; Levandovskiy, V; Schenone, AB | 1 |
| Stipanuk, MH | 1 |
| Kido, J; Kitajima, M; Matsumoto, S; Mitsubuchi, H; Momosaki, K; Nakamura, K; Sawada, T; Suzuki, Y; Uetani, H | 1 |
| Antonyuk, SV; Bradley-Clarke, J; Hasnain, SS; Mato, JM; O'Neill, PM; Panmanee, J | 1 |
| Carrasco, M; Castro, C; Lu, SC; Luka, Z; Martínez-Chantar, ML; Mato, JM; Micó, JA; Murillo-Carretero, M; Ortega-Martínez, S; Rabaneda, LG; Wagner, C; Woodhoo, A | 1 |
| Cheillan, D; Dessein, AF; Dobbelaere, D; Fontaine, M; Joncquel-Chevalier Curt, M; Mention-Mulliez, K; Porchet, N; Soto-Ares, G; Vamecq, J; Voicu, PM | 1 |
| Ataullakhanov, FI; Banerjee, R; Martinov, MV; Vitvitsky, VM | 1 |
| Balasubramaniam, S; Bjursell, MK; Blom, HJ; Brandberg, G; Cayuela, JA; Engvall, ML; Falkenberg, M; Gustafsson, CM; Halldin, M; Jakobs, C; Lesko, N; Lundeberg, J; Smith, D; Struys, E; von Döbeln, U; Wedell, A | 1 |
| Furujo, M; Kinoshita, M; Kubo, T; Nagao, M | 2 |
| Cooper, AJ | 1 |
| Bottiglieri, T; Charles, HC; Gray, L; Hyland, K; Jaeken, J; Kahler, SG; Lazeyras, F; Van Hove, JL; Zeisel, SH | 1 |
| Cotton, RC; Danks, DM; Goldsmith, D; Patrick, MG | 1 |
| Miller, JW; Selhub, J | 1 |
| Bélanger, L; Bélanger, M; Gourdeau, H; Larochelle, J | 1 |
8 review(s) available for s-adenosylmethionine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; DNA Mutational Analysis; Ethnicity; Exons; Female; Genetic Testing; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Male; Mass Spectrometry; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Sequence Deletion; Treatment Outcome | 2003 |
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Carnitine; Hematologic Tests; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mass Spectrometry | 2003 |
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; Glycine N-Methyltransferase; Homocysteine; Humans; Hydrogen Sulfide; Liver; Methionine; S-Adenosylmethionine; Serine; Sulfides; Sulfur; Thiosulfates | 2020 |
Creatine biosynthesis and transport in health and disease.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP-Activated Protein Kinases; Animals; Biological Transport, Active; Brain Diseases, Metabolic, Inborn; Creatine; Developmental Disabilities; Energy Metabolism; Guanidinoacetate N-Methyltransferase; Gyrate Atrophy; Humans; Hyperammonemia; Intellectual Disability; Language Development Disorders; Mental Retardation, X-Linked; Methylation; Mitochondrial Membrane Transport Proteins; Movement Disorders; Mutation; Nerve Tissue Proteins; Ornithine; Plasma Membrane Neurotransmitter Transport Proteins; Prenatal Diagnosis; S-Adenosylmethionine; Speech Disorders; Urea Cycle Disorders, Inborn | 2015 |
The logic of the hepatic methionine metabolic cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Glycine N-Methyltransferase; Humans; Liver; Metabolic Networks and Pathways; Methionine; Methionine Adenosyltransferase; Methylation; Methyltransferases; Models, Biological; S-Adenosylmethionine | 2010 |
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Brain; Demyelinating Diseases; Diet; Genetic Testing; Glycine N-Methyltransferase; Humans; Infant, Newborn; Isoenzymes; Methionine; Methionine Adenosyltransferase; Mutation; S-Adenosylmethionine; Severity of Illness Index | 2012 |
Biochemistry of sulfur-containing amino acids.
Topics: Adenosine; Amino Acid Metabolism, Inborn Errors; Animals; Cysteine; Deoxyadenosines; Homocysteine; Humans; Methionine; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; S-Adenosylmethionine; Structure-Activity Relationship; Sulfur; Sulfurtransferases; Thionucleosides; Thiosulfate Sulfurtransferase | 1983 |
The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Homocysteine; Humans; Methionine; Methylation; S-Adenosylmethionine | 1992 |
43 other study(ies) available for s-adenosylmethionine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autism Spectrum Disorder; Autistic Disorder; Child; Creatine; Cross-Sectional Studies; Humans; Iran; Seizures | 2023 |
Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Carnitine O-Palmitoyltransferase; Colorado; False Positive Reactions; Female; Fetal Macrosomia; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Neonatal Screening; Pediatric Obesity; Pregnancy; Propionic Acidemia; Tandem Mass Spectrometry | 2020 |
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Carnitine; Creatine; Creatinine; Developmental Disabilities; gamma-Aminobutyric Acid; Glycine; Humans; Male; Metabolomics; Succinate-Semialdehyde Dehydrogenase | 2020 |
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Preschool; DNA; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Proteinuria | 2020 |
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Carnitine; Cities; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Predictive Value of Tests; Prevalence; Spain; Tandem Mass Spectrometry | 2020 |
Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Chromatography, High Pressure Liquid; Humans; Isovaleryl-CoA Dehydrogenase; Limit of Detection; Reproducibility of Results; Tandem Mass Spectrometry | 2017 |
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brazil; Carnitine; Child, Preschool; Chromatography, Liquid; Fatty Acids; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Screening; Oxidation-Reduction; Prevalence; Tandem Mass Spectrometry; Young Adult | 2018 |
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Chromatography, High Pressure Liquid; Diagnosis, Differential; Dried Blood Spot Testing; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Limit of Detection; Neonatal Screening; Reproducibility of Results; Tandem Mass Spectrometry | 2013 |
Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Carnitine; Child; Child, Preschool; China; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolic Diseases; Middle Aged; Oxidation-Reduction; Phenylketonurias; Tandem Mass Spectrometry | 2015 |
[C5-carnitine false positive results in newborn screening: what is the cause?].
Topics: Amino Acid Metabolism, Inborn Errors; Biotransformation; Breast Feeding; Carnitine; Coenzyme A Ligases; Cosmetics; False Positive Reactions; Female; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Maternal-Fetal Exchange; Neonatal Screening; Ointments; Pentanoic Acids; Pregnancy; Tandem Mass Spectrometry | 2015 |
An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Topics: Amino Acid Metabolism, Inborn Errors; Australia; Carnitine; Female; Health Personnel; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Medical Audit; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry; Time Factors | 2015 |
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carnitine; Diet, Protein-Restricted; Hepatitis B Vaccines; Humans; Infant; Male; Methylmalonic Acid; Mutation; Vaccination; Vitamin B Complex; Vomiting | 2015 |
Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Carnitine; Child, Preschool; Chromatography, Liquid; Female; Glycine; Humans; Hyperammonemia; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Muscular Diseases; Neonatal Screening; Serine Proteinase Inhibitors; Sulfonamides; Tandem Mass Spectrometry | 2015 |
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Topics: Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Betaine; Carbon-Carbon Ligases; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Infant, Newborn; Isomerism; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry; Urea Cycle Disorders, Inborn | 2015 |
Increased C3 Acylcarnitine Concentration in a Newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Hydroxocobalamin; Infant, Newborn; Mitochondrial Membrane Transport Proteins; Mutation; Neonatal Screening; Treatment Outcome | 2016 |
[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry].
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Consanguinity; Fatal Outcome; Female; Humans; Infant, Newborn; Propionates; Tandem Mass Spectrometry | 2008 |
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
Topics: Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Chromatography, Liquid; DNA Mutational Analysis; Dried Blood Spot Testing; Genetic Predisposition to Disease; Genetic Testing; Heredity; Humans; Infant, Newborn; Italy; Mutation; Neonatal Screening; Pedigree; Phenotype; Predictive Value of Tests; Tandem Mass Spectrometry | 2010 |
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 Studies; Chromatography, Liquid; False Positive Reactions; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Japan; Lactic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Predictive Value of Tests; Retrospective Studies; Severity of Illness Index; Tandem Mass Spectrometry | 2010 |
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Carnitine; Carnitine O-Palmitoyltransferase; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Lipid Metabolism, Inborn Errors; Reye Syndrome; Time Factors; Treatment Outcome; Vitamin B Complex | 2010 |
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Carnitine; Case-Control Studies; Chromatography, Liquid; Follow-Up Studies; Glutaryl-CoA Dehydrogenase; Humans; Ions; Predictive Value of Tests; Reproducibility of Results; Tandem Mass Spectrometry | 2012 |
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
Topics: Acid-Base Equilibrium; Acidosis; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Bicarbonates; Carnitine; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Young Adult | 2012 |
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carnitine; Cohort Studies; Decision Trees; Evidence-Based Medicine; Fatty Acid Desaturases; Follow-Up Studies; Germany; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Metabolism, Inborn Errors; Neonatal Screening; Predictive Value of Tests; Prospective Studies; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Treatment Outcome | 2003 |
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Cytosine; DNA Mutational Analysis; Fatal Outcome; Guanine; Humans; Infant, Newborn; Male; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Mutation; Protein Isoforms | 2003 |
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
Topics: Acetoacetates; Acetyl-CoA C-Acetyltransferase; Amino Acid Metabolism, Inborn Errors; Carnitine; Humans; Hydroxybutyrates; Infant; Isoleucine; Ketone Bodies; Male; Mitochondria; Mutation | 2003 |
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
Topics: Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Southern; Carnitine; Cell Line; Citrates; DNA; Fibroblasts; Genotype; Homozygote; Liver; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mice; Mice, Knockout; Mice, Transgenic; Models, Genetic; Phenotype; Plasmids; Protein Structure, Tertiary; RNA, Messenger; Time Factors | 2003 |
Genetic and biochemical study in a patient with glutaric acidemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Male; Mutation; Oxidoreductases Acting on CH-CH Group Donors | 2004 |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Calcium-Binding Proteins; Carnitine; Cholestasis, Intrahepatic; Humans; Infant; Infant, Newborn; Mass Spectrometry; Membrane Transport Proteins; Models, Biological; Neonatal Screening; Organic Anion Transporters; Time Factors | 2006 |
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Dietary Supplements; Exercise; Fatty Acids; Female; Humans; Male; Time Factors | 2006 |
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Carnitine; Child; Child, Preschool; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Male; Mitochondrial Trifunctional Protein; Mitochondrial Trifunctional Protein, alpha Subunit; Mitochondrial Trifunctional Protein, beta Subunit; Molecular Sequence Data; Multienzyme Complexes; Mutation; Sequence Homology, Amino Acid; Tandem Mass Spectrometry | 2007 |
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Ethnicity; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Vietnam; Wisconsin | 2007 |
Metabolomics identifies perturbations in human disorders of propionate metabolism.
Topics: Acetylcarnitine; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Biomarkers; Carnitine; Child; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Plasma; Propionates; Spectrometry, Mass, Electrospray Ionization | 2007 |
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Tandem Mass Spectrometry | 2007 |
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Neonatal Screening; Pilot Projects; Program Evaluation; Sensitivity and Specificity; South Australia; Western Australia | 1999 |
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carnitine; DNA Primers; DNA, Complementary; Female; Humans; Infant; Isoleucine; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pregnancy; Prenatal Diagnosis | 2000 |
Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Diet; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Neonatal Screening | 2001 |
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Demyelinating Diseases; Glycine N-Methyltransferase; Humans; Infant; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Neonatal Screening; Nervous System Diseases; Pontine Tegmentum; S-Adenosylmethionine | 2019 |
Control and regulation of S-Adenosylmethionine biosynthesis by the regulatory β subunit and quinolone-based compounds.
Topics: Amino Acid Metabolism, Inborn Errors; Apoptosis; Carcinoma, Hepatocellular; Catalytic Domain; Cell Proliferation; DNA Methylation; DNA Replication; Gene Expression Regulation, Enzymologic; Glycine N-Methyltransferase; Humans; Liver; Liver Neoplasms; Methionine Adenosyltransferase; Multiprotein Complexes; Mutation; Protein Interaction Domains and Motifs; Quinolones; S-Adenosylmethionine | 2019 |
Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performance.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cognition; Cyclin E; Fibroblast Growth Factor 2; Gene Expression Regulation; Glycine N-Methyltransferase; Hippocampus; MAP Kinase Signaling System; Maze Learning; Memory Disorders; Methionine; Methionine Adenosyltransferase; Methylation; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins; Neurogenesis; Neuronal Plasticity; Rotarod Performance Test; S-Adenosylmethionine | 2014 |
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Topics: Adenosine Kinase; Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Developmental Disabilities; Family Health; Female; Fibroblasts; Homocysteine; Humans; Liver Diseases; Male; Methionine; S-Adenosylhomocysteine; S-Adenosylmethionine | 2011 |
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Methionine; Methionine Adenosyltransferase; Mutation, Missense; S-Adenosylmethionine | 2012 |
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; Homocysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Methylation; Phosphatidylcholines; S-Adenosylmethionine; Seizures; Serine; Tetrahydrofolates | 1998 |
A screening test for sulphur-containing metabolites in urine using auxotrophic mutants of Escherichia coli K12.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biological Assay; Cystathionine; Cystinuria; Escherichia coli; Homocystinuria; Humans; Infant, Newborn; Methods; Mutation; S-Adenosylhomocysteine; S-Adenosylmethionine; Sulfur | 1975 |
[New observations on fetal liver cirrhosis associated with hereditary tyrosinemia].
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Animals; Female; Fetal Diseases; Guinea Pigs; Humans; Liver; Liver Cirrhosis; Pregnancy; Rats; S-Adenosylmethionine; Tyrosine | 1985 |