s-adenosylmethionine has been researched along with Metabolism, Inborn Errors in 88 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 6 (6.82) | 18.2507 |
| 2000's | 41 (46.59) | 29.6817 |
| 2010's | 34 (38.64) | 24.3611 |
| 2020's | 7 (7.95) | 2.80 |
| Authors | Studies |
|---|---|
| Adam, T; Chrastina, P; Farolfi, M; Foltenová, H; Friedecký, D; Hanák, P; Honzík, T; Hrubá, E; Ješina, P; Kousal, B; Kožich, V; Pavlíková, M; Rücklová, K; Smolka, V; Vlášková, H; Zeman, J | 1 |
| Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S | 1 |
| Baker, PR; Wright, EL | 1 |
| Gong, LF; Kong, YY; Liu, W; Ma, ZJ; Wan, ZH; Yang, HH; Yang, N; Zhao, JQ | 1 |
| Acquaviva-Bourdain, C; Corne, C; Dessein, AF; Garnotel, R; Minet-Quinard, R; Nowoczyn, M; Van Noolen, L | 1 |
| Dabaj, I; Imbard, A; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A | 1 |
| Arce-Plata, MI; Arévalo-Herrera, M; Castiñeiras, DE; Céspedes, N; Cocho, JA; Colón, C; Echeverry, CA; Herrera, S; Hurtado, PM; Valencia, A | 1 |
| Akhteruzzaman, S; Begum, MN; Bhuyan, GS; Biswas, A; Islam, ABMMK; Islam, MT; Khanam, M; Mannan, MA; Mannoor, K; Muraduzzaman, AKM; Noor, FA; Qadri, F; Qadri, SK; Qadri, SS; Rahat, A; Rahman, SM; Rakhshanda, S; Saha, AK; Saha, N; Sajib, AA; Sarker, SK; Shahidullah, M; Shirin, T; Sultana, N; Sultana, R; Yeasmin, S | 1 |
| Behringer, S; Grünert, SC; Spiekerkoetter, U; Sturm, M; Tucci, S | 1 |
| Ali, AA; Amin, M; El Gayar, D; Farid, TM; Mandour, I | 1 |
| Dieplinger, R; Kasper, DC; Lutsch, NM; Mechtler, TP; Metz, TF; Ostermann, KM; Strupat, K | 1 |
| Cai, Y; Fang, X; Huang, Y; Liang, C; Lin, R; Liu, L; Peng, M | 1 |
| Ando, S; Arai, S; Asaka, I; Higaki, Y; Hitomi, H; Kaneoka, H; Kurose, Y; Nakashima, H; Osafune, K; Saito, T; Sakurai, H; Sudo, M; Tanaka, A; Yamada, K; Yamaguchi, S; Yasuno, T | 1 |
| Berberich, SL; Jelliffe-Pawlowski, LL; Momany, AM; Murray, JC; Ryckman, KK; Smith, CJ | 1 |
| El-Mesellamy, H; Fateen, E; Gouda, AS; Zaki, SS | 1 |
| Adeli, K; Bevilacqua, V; Chan, MK; Chen, YK; Kyriakopoulou, L; Raizman, JE; Schulze, A; Teodoro-Morrison, T; Wan, B; Yazdanpanah, M | 1 |
| Aydin, A; Cansever, S; Kiykim, E; Soyucen, E; Yalcinkaya, C; Zeybek, CA; Zubarioglu, T | 1 |
| Adams, SH; Gillingham, MB; Knotts, TA; Matern, D; McCoin, CS; Piccolo, BD; Vockley, J | 1 |
| Bekhof, J; de Koning, TJ; Derks, TG; Heiner Fokkema, MR; Koolhaas, GD; Schielen, PC; van Rijt, WJ; van Spronsen, FJ; Visser, G | 1 |
| Britz-McKibbin, P; Chalcraft, KR | 1 |
| Arnecke, R; Ensenauer, R; Fingerhut, R; Olgemöller, B; Roscher, AA; Röschinger, W | 1 |
| Acquaviva-Bourdain, C; Andresen, BS; Bedat-Millet, AL; Behin, A; Boespflug-Tanguy, O; Brivet, M; Chabrol, B; Chaigne, D; Delevaux, I; Eymard, B; Laforêt, P; Laroche, C; Lombès, A; Penisson-Besnier, I; Rigal, O; Vianey-Saban, C | 1 |
| Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C | 1 |
| Arias, A; Artuch, R; Campistol, J; Desviat, LR; Farré, G; García-Cazorla, A; García-Villoria, J; Merinero, B; Ribes, A; Rodríguez-Pombo, P; Sempere, A; Vilaseca, MA | 1 |
| Bogas, M; Fonseca, H; Marcão, A; Osório, RV; Rocha, H; Sousa, C; Vilarinho, L | 1 |
| Hata, I; Shigematsu, Y; Tajima, G | 1 |
| Haussmann, U; Lukacs, Z; Mueller, M; Santer, R; Spiekerkoetter, U; Stehn, M; ter Veld, F | 1 |
| Baumgartner, MR; De Jesus Silva Arevalo, G; Figueroa, AW; Fingerhut, R; Fresse, EM; Häberle, J; Polanco, OL; Rohrbach, M; Torresani, T | 1 |
| Bonnefont, JP; Bouchireb, K; Brivet, M; de Lonlay, P; de Pontual, L; Gaudelus, J; Rigal, O; Sellier, N; Teychene, AM; Valayannopoulos, V | 1 |
| Hendriksz, C; Santra, S | 1 |
| Angelini, C; Anichini, A; Bruno, C; Cassandrini, D; Fanin, M; Fiorillo, C; Vianey-Saban, C | 1 |
| Andresen, BS; Bogdańska, A; Gradowska, W; Gregersen, N; Jabłońska, E; Krajewska-Walasek, M; Kuśmierska, K; Olsen, RK; Ołtarzewski, M; Pajdowska, M; Piekutowska-Abramczuk, D; Pronicka, E; Pronicki, M; Radomyska, B; Sykut-Cegielska, J | 1 |
| Marble, M; McGoey, RR | 1 |
| Christopher, R; De, T; Kruthika-Vinod, TP; Nagaraja, D | 1 |
| Chan, AO; Chan, AY; Chen, SP; Ching, CK; Lai, CK; Lam, CW; Law, CY; Lee, HC; Mak, CM; Shek, CC; Siu, TS; Siu, WK; Tai, HL; Tam, S; Yuen, YP | 1 |
| Fong, BM; Leung, KS; Tam, S | 1 |
| Bennett, MJ; Lopes, L; Marques, JS; Narayan, SB; Ramos, A; Rocha, H; Vilarinho, L | 1 |
| Franzson, L; Jonsson, JJ; Sahoo, S; Thiele, I | 1 |
| Di Gangi, IM; Giordano, G; Gucciardi, A; Naturale, M; Pirillo, P | 1 |
| Chiang, SC; Chien, YH; Hsu, LW; Hwu, WL; Lee, NC; Wang, SF | 1 |
| Britz-McKibbin, P | 1 |
| Andria, G; Parenti, G; Scala, I | 1 |
| Carpenter, K; Christodoulou, J; Giak Sim, K; Hammond, J; Wilcken, B | 1 |
| Eggington, M; Kahler, SG; Pitt, JJ | 1 |
| Hoffmann, GF; Kohlmueller, D; Linderkamp, O; Mayatepek, E; Meyburg, J; Pöschl, J; Schulze, A | 1 |
| Buehrdel, P; Ceglarek, U; Ethofer, T; Mueller, P; Schindler, I; Schulze, A | 1 |
| Hoffmann, GF; Kohlmüller, D; Lindner, M; Mayatepek, E; Olgemöller, K; Schulze, A | 1 |
| Hata, I; Kimura, M; Sakaguchi, M; Shigematsu, Y; Tokunaga, Y; Watanabe, Y; Yamaguchi, S; Yoshida, I; Yoshino, M | 1 |
| Boney, A; Chaing, S; Frazier, DM; Kishnani, PS; Koeberl, DD; McCandless, SE; McDonald, MT; Millington, DS; Moore, E; Muenzer, J; Smith, WE; Weavil, SD | 1 |
| Bollaert, PE; de Chillou, C; Feillet, F; Lefebvre, E; Sadoul, N; Steinmann, G; Vianey-Saban, C; Vidailhet, M | 1 |
| Dixon, MA; Leonard, JV; Lund, AM; Morris, AA; Vreken, P | 1 |
| Donati, MA; la Marca, G; Malvagia, S; Morrone, A; Pasquini, E; Zammarchi, E | 1 |
| Lehotay, DC; LePage, J; Rockman-Greenberg, C; Thompson, JR | 1 |
| Birk, OS; Galron, D; Hershkovitz, E; Kazanovitz, A; Moses, SW | 1 |
| Bodamer, OA; Holub, M; Item, C; Mühl, A; Pollak, A; Stöckler-Ipsiroglu, S | 1 |
| Chalmers, RA; Harrison, EL; Jones, MG; Jones, S; Lee, PJ; Leonard, JV | 1 |
| Greenberg, CR; Haas, D; Hoffmann, GF; Kohlmüller, D; Kölker, S; Lindner, M; Mayatepek, E; Okun, JG; Schulze-Bergkamen, A; Schulze-Bergkamen, H; Spiekerkötter, U; Zschocke, J | 1 |
| Liu, A; Pasquali, M | 1 |
| de Sain, MG; Dorland, L; Engbers, HM; Eskes, PF; Visser, G | 1 |
| Beresford, MW; Davidson, JE; Pourfarzam, M; Turnbull, DM | 1 |
| Aledo, R; Casals, N; Champion, MP; Dalton, RN; Hegardt, FG; Mir, C; Pié, J; Turner, C | 1 |
| Liebig, M; Mayatepek, E; Mueller, M; Schymik, I; Spiekerkoetter, U; Strauss, AW; Wanders, RJ; Wendel, U | 1 |
| Clark, S; Day, C; Henderson, MJ; Olpin, S; Patterson, A; Savill, G; Vijay, S; Walter, JH | 1 |
| Blobel, H; Gottschalk, J; Hoffmann, GF; Kölker, S; Köppel, S; Waterham, HR | 1 |
| Chien, YH; Chu, KL; Huang, HP; Hwu, WL; Wang, SF; Wei, ML; Wu, ST | 1 |
| Bodamer, OA; Heinze, G; Holub, M; Lebl, J; Mascher, H; Mühl, A; Ratschmann, R; Stöckler-Ipsiroglu, S; Strnadová, KA; Votava, F; Waldhauser, F | 1 |
| Ito, T; Kurono, Y; Maeda, Y; Sugiyama, N; Sumi, S; Suzuki, A; Togari, H; Ueta, A; Yokoi, K | 1 |
| Endo, M; Hasegawa, Y; Kobayashi, H; Purevsuren, J; Yamaguchi, S | 1 |
| Chakrapani, A; Gray, G; Hendriksz, C; Macdonald, A; Pierre, G; Preece, MA | 1 |
| Andersen, O; Andresen, BS; Beresford, MW; Cornelius, N; Dean, JC; Frerman, FE; Gregersen, N; Holme, E; Merinero, B; Miedzybrodzka, ZH; Morris, AA; Oldfors, A; Olpin, SE; Olsen, RK; Pourfarzam, M; Turnbull, DM | 1 |
| Bodamer, OA; Hoffmann, GF; Lindner, M | 1 |
| Battisti, C; Dotti, MT; Federico, A; Forte, F; Funghini, S; Molinelli, M; Pasquini, E; Tassini, M | 1 |
| Cowan, TM; Matern, D; Rinaldo, P | 1 |
| Chace, DH; Naylor, EW | 1 |
| Brivet, M; Roe, CR; Roe, DS; Sweetman, L | 1 |
| Cyr, D; Giguère, R; Giguère, Y; Lemieux, B | 1 |
| al-Essa, MA; Bakheet, SM; Ozand, PT; Patay, ZJ; Rashed, MS | 1 |
| Brandt, NJ; Christensen, E; Jensen, UG; Nørgaard-Pedersen, B; Simonsen, H; Skovby, F | 1 |
| Chace, DH; DiPerna, JC; Hofman, LF; Mitchell, BL; Naylor, EW; Sgroi, B | 1 |
| Green, A; Hardy, D; Preece, MA | 1 |
| Kožich, V; Stabler, S | 1 |
| Augoustides-Savvopoulou, P; Barić, I; Blom, HJ; Chien, YH; Dobbelaere, D; Grünert, SC; Opladen, T; Petković Ramadža, D; Rakić, B; Staufner, C; Wedell, A | 1 |
| Allen, RH; Barić, I; Buist, NR; Glenn, B; Mudd, SH; Pogribny, I; Schulze, A; Stabler, S; Vugrek, O; Wagner, C; Zeisel, SH | 1 |
| Bowron, A; Heales, S; Surtees, R | 1 |
| Bottiglieri, T; Hyland, K; Reynolds, EH | 1 |
| Metz, J | 1 |
| Surtees, R | 1 |
| Ilas, J; Mühl, A; Stöckler-Ipsiroglu, S | 1 |
9 review(s) available for s-adenosylmethionine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
Topics: Amino Acids; Autopsy; Carnitine; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Reye Syndrome; Sudden Infant Death | 2016 |
How to use acylcarnitine profiles to help diagnose inborn errors of metabolism.
Topics: Carnitine; Chemistry, Clinical; Child; Humans; Metabolism, Inborn Errors; Pediatrics | 2010 |
Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; Lysosomal Storage Diseases; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spectrometry | 2014 |
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
Topics: Acyl-CoA Dehydrogenase; Amino Acids; Carnitine; DNA; DNA Mutational Analysis; Female; Gestational Age; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Paper; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Tandem Mass Spectrometry | 2012 |
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.
Topics: Arabs; Carnitine; Carnitine Acyltransferases; Fatal Outcome; Humans; Infant, Newborn; Israel; Male; Metabolism, Inborn Errors; Mutation, Missense; Oxidation-Reduction | 2004 |
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds | 2020 |
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Topics: Consensus; Homocysteine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; Neonatal Screening; S-Adenosylhomocysteine; S-Adenosylmethionine | 2017 |
The clinical potential of ademetionine (S-adenosylmethionine) in neurological disorders.
Topics: AIDS Dementia Complex; Animals; Brain Diseases; Dementia; Disease Models, Animal; Epilepsy; Humans; Metabolism, Inborn Errors; Methotrexate; Methylation; Multiple Sclerosis; Neurotransmitter Agents; Parkinson Disease; Receptors, Neurotransmitter; S-Adenosylmethionine; Spinal Cord Diseases | 1994 |
Demyelination and inborn errors of the single carbon transfer pathway.
Topics: Demyelinating Diseases; Humans; Liver; Metabolism, Inborn Errors; Methionine Adenosyltransferase; Methylation; Myelin Basic Protein; One-Carbon Group Transferases; S-Adenosylmethionine | 1998 |
1 trial(s) available for s-adenosylmethionine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
Topics: 3-Hydroxybutyric Acid; Acids; Acyl-CoA Dehydrogenase; Adolescent; Adult; Anaerobic Threshold; Blood Glucose; Carnitine; Child; Exercise; Exercise Test; Fatty Acids, Nonesterified; Female; Humans; Lactic Acid; Life Style; Male; Metabolism, Inborn Errors; Pilot Projects | 2005 |
78 other study(ies) available for s-adenosylmethionine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Child; Child, Preschool; Czech Republic; Female; Humans; Incidence; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Neonatal Screening; Nervous System Diseases; Outcome Assessment, Health Care; Retrospective Studies; Rhabdomyolysis; Severity of Illness Index | 2021 |
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Pedigree; Point Mutation | 2021 |
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 |
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Topics: Amino Acids; Beijing; Carnitine; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spectrometry | 2020 |
[Recommendations for acylcarnitine profile analysis].
Topics: Accreditation; Adult; Amniocentesis; Amniotic Fluid; Blood Chemical Analysis; Blood Specimen Collection; Carnitine; Child; Chromatography, Paper; Clinical Laboratory Services; Diagnostic Tests, Routine; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; Pre-Analytical Phase; Pregnancy; Prenatal Diagnosis; Urinalysis; Urine Specimen Collection | 2020 |
An Unusual Peak in a Common Clinical Presentation.
Topics: Carnitine; Diagnosis, Differential; Female; Glutamate Formimidoyltransferase; Humans; Infant; Leukomalacia, Periventricular; Metabolism, Inborn Errors | 2021 |
Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
Topics: Amino Acids; Biomarkers; Carnitine; Colombia; Cross-Sectional Studies; False Positive Reactions; Heptanoates; Humans; Infant, Newborn; Metabolism, Inborn Errors; Reference Values; Sensitivity and Specificity; Tandem Mass Spectrometry | 2017 |
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
Topics: Adolescent; Age Factors; Amino Acids; Carnitine; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Tandem Mass Spectrometry | 2019 |
Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Case-Control Studies; Humans; Infant, Newborn; Lymphocytes; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Tandem Mass Spectrometry | 2019 |
Amino acid and acylcarnitine profiles in premature neonates: a pilot study.
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Female; Gestational Age; Humans; Infant, Newborn; Infant, Premature, Diseases; Longitudinal Studies; Male; Metabolism, Inborn Errors; Neonatal Screening; Reference Values; Spectrometry, Mass, Electrospray Ionization | 2013 |
Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots.
Topics: Carnitine; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Organic Chemicals; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | 2013 |
Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects.
Topics: Carnitine; Chromatography, High Pressure Liquid; Diagnosis, Differential; Fatty Acids; Humans; Isomerism; Metabolism, Inborn Errors; Oxidation-Reduction; Reference Standards; Reproducibility of Results; Tandem Mass Spectrometry | 2013 |
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.
Topics: Bezafibrate; Carnitine; Carnitine O-Palmitoyltransferase; Cell Differentiation; Cells, Cultured; Fibroblasts; Gene Expression Regulation; Humans; Male; Metabolism, Inborn Errors; Muscle Cells; Palmitoylcarnitine; Pluripotent Stem Cells; Young Adult | 2014 |
Metabolic heritability at birth: implications for chronic disease research.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adult; Carnitine; Chronic Disease; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Organic Cation Transport Proteins; Symporters; Tandem Mass Spectrometry | 2014 |
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
Topics: Biomarkers; Carnitine; Child, Preschool; Chromatography, High Pressure Liquid; Egypt; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Risk Factors; Spectrometry, Mass, Electrospray Ionization | 2014 |
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.
Topics: Adolescent; Amino Acids; Biomarkers; Carnitine; Child; Child, Preschool; Cohort Studies; Female; Health; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Reference Values; Residence Characteristics; Young Adult | 2015 |
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Topics: Adolescent; Adult; Amino Acids; Ammonia; Autism Spectrum Disorder; Blood Gas Analysis; Carnitine; Child; Child, Preschool; Comorbidity; Female; Glycosaminoglycans; Homocysteine; Humans; Infant; Lactic Acid; Male; Metabolism, Inborn Errors; Prevalence; Retrospective Studies; Tandem Mass Spectrometry; Turkey; Young Adult | 2016 |
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Case-Control Studies; Ceramides; Fatty Acids; Female; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Oxidation-Reduction; Phosphatidylcholines; Phosphatidylethanolamines; Plasma; Sphingomyelins; Triglycerides | 2016 |
Newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry: a second-tier method with improved specificity and sensitivity.
Topics: Adult; Amino Acids; Calibration; Carnitine; Electrophoresis, Capillary; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization | 2009 |
Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.
Topics: Carnitine; Desiccation; Humans; Infant, Newborn; Linear Models; Metabolism, Inborn Errors; Neonatal Screening; Organic Cation Transport Proteins; Reproducibility of Results; Retrospective Studies; Solute Carrier Family 22 Member 5; Specimen Handling; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry; Temperature | 2009 |
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Biomarkers; Carnitine; Cells, Cultured; Child; DNA Mutational Analysis; Exercise Tolerance; Female; Genetic Testing; Genotype; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Mitochondrial Diseases; Muscle Weakness; Muscular Diseases; Mutation; Rhabdomyolysis; Young Adult | 2009 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Association Studies; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid; Neonatal Screening; New York; Propionates; Referral and Consultation; Vitamin B 12 | 2010 |
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Carnitine; Child; Child, Preschool; Chromium; Cohort Studies; Creatine; Female; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Middle Aged; Phenylketonurias; Purines; Pyrimidines | 2010 |
Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
Topics: Amino Acids; Biomarkers; Carnitine; Early Diagnosis; False Positive Reactions; Genetic Predisposition to Disease; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenotype; Portugal; Predictive Value of Tests; Prevalence; Prognosis; Program Evaluation; Tandem Mass Spectrometry; Time Factors | 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 |
Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Clinical Enzyme Tests; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spectrometry | 2010 |
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
Topics: Adult; Amino Acids; Biomarkers; Blood Specimen Collection; Carnitine; False Negative Reactions; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Middle Aged; Neonatal Screening; Postprandial Period; Predictive Value of Tests; Up-Regulation; Young Adult | 2010 |
Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Cause of Death; Diagnosis; Fatty Liver; Hepatomegaly; Humans; Infant; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Postmortem Changes; Sudden Infant Death | 2010 |
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
Topics: Adolescent; Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Female; Genetic Association Studies; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Muscle, Skeletal; Mutation | 2011 |
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adolescent; Carnitine; Child; Child, Preschool; Cohort Studies; Desiccation; DNA Mutational Analysis; Emergency Service, Hospital; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Intensive Care Units, Neonatal; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; Male; Metabolism, Inborn Errors; Neonatal Screening; Physical Examination; Pilot Projects; Polymorphism, Restriction Fragment Length; Survival; Time Factors; Urinalysis | 2011 |
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mothers; Muscular Diseases; Neonatal Screening; Phenotype | 2011 |
Postnatal variations in blood free and acylcarnitines.
Topics: Carnitine; Female; Genetic Variation; Gestational Age; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; Reference Values; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2011 |
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.
Topics: Acids; Amino Acids; Carnitine; Hong Kong; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spectrometry | 2011 |
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; Chromatography, High Pressure Liquid; Deuterium; Female; Glycine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Reference Values; Sensitivity and Specificity; Solid Phase Extraction; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2012 |
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child, Preschool; Genetic Variation; Humans; Infant, Newborn; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; Neonatal Screening | 2012 |
A compendium of inborn errors of metabolism mapped onto the human metabolic network.
Topics: Acetyl Coenzyme A; Amino Acids; Brain; Carbohydrate Metabolism; Carnitine; Dried Blood Spot Testing; Fatty Acids; Genome, Human; Humans; Infant, Newborn; Lipid Metabolism; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Metabolomics; Oxidation-Reduction; Tandem Mass Spectrometry | 2012 |
A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening.
Topics: Calibration; Carnitine; Chromatography, Liquid; Dried Blood Spot Testing; Flow Injection Analysis; Humans; Infant, Newborn; Isomerism; Limit of Detection; Metabolism, Inborn Errors; Neonatal Screening; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2012 |
Expanded newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS).
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Electrophoresis, Capillary; Humans; Infant, Newborn; Maleimides; Metabolism, Inborn Errors; Neonatal Screening; Spectrometry, Mass, Electrospray Ionization; Sulfhydryl Compounds | 2013 |
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Carnitine; Child; Child, Preschool; Fatty Acid Desaturases; Fatty Acids; Fibroblasts; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Mitochondria; Oxidation-Reduction; Phenotype | 2002 |
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry.
Topics: Amino Acids; Carboxylic Acids; Carnitine; Humans; Mass Screening; Metabolism, Inborn Errors; Spectrometry, Mass, Electrospray Ionization | 2002 |
Acylcarnitine profiles of preterm infants over the first four weeks of life.
Topics: Carnitine; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; Neonatal Screening; Spectrometry, Mass, Electrospray Ionization; Time Factors | 2002 |
Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults.
Topics: Adolescent; Adult; Age Factors; Carnitine; Case-Control Studies; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization | 2003 |
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 |
Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Infant, Newborn; Kidney; Male; Metabolism, Inborn Errors; Spectrometry, Mass, Electrospray Ionization | 2003 |
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Topics: Acids; Carbon-Carbon Ligases; Carnitine; Female; Genetic Testing; Humans; Infant, Newborn; Lymphocytes; Male; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; North Carolina; Pilot Projects | 2003 |
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
Topics: Acyl-CoA Dehydrogenase; Adult; Arrhythmias, Cardiac; Carnitine; Coma; Critical Care; Dicarboxylic Acids; Humans; Male; Metabolism, Inborn Errors; Treatment Outcome | 2003 |
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child; Child, Preschool; Fatty Acids, Nonesterified; Food, Formulated; Humans; Metabolism, Inborn Errors; Respiratory Mechanics; Triglycerides | 2003 |
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Calibration; Carnitine; Chromatography, High Pressure Liquid; DNA; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Reverse Transcriptase Polymerase Chain Reaction | 2003 |
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Topics: Acyl-CoA Dehydrogenase; Adenine; Carnitine; Diagnosis, Differential; Gene Frequency; Genotype; Guanine; Heterozygote; Humans; Infant, Low Birth Weight; Infant, Newborn; Metabolism, Inborn Errors; Osmolar Concentration; Phenotype | 2004 |
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adult; Carnitine; Case-Control Studies; DNA Mutational Analysis; Female; HELLP Syndrome; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pregnancy; Retrospective Studies; Risk Factors | 2005 |
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Topics: Adipates; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Male; Mass Spectrometry; Metabolism, Inborn Errors; Monocytes; Palmitic Acid | 2005 |
Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry.
Topics: Acetonitriles; Carnitine; Chemical Fractionation; Glutarates; Humans; Isotope Labeling; Mass Spectrometry; Metabolism, Inborn Errors; Methanol; Reproducibility of Results | 2005 |
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Blood Glucose; Carnitine; Fasting; Glucose; Humans; Hypoglycemia; Infant; Metabolism, Inborn Errors; Rhabdomyolysis | 2005 |
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Female; Glutarates; Humans; Iron-Sulfur Proteins; Metabolism, Inborn Errors; Muscular Diseases; Oxidoreductases Acting on CH-NH Group Donors | 2006 |
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Topics: Carnitine; DNA Mutational Analysis; Genotype; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mutation | 2006 |
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child, Preschool; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Metabolism, Inborn Errors; Mutation, Missense; Neonatal Screening; Spectrometry, Mass, Electrospray Ionization | 2006 |
Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
Topics: Adult; Carnitine; Consanguinity; Female; Fetal Blood; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolism, Inborn Errors; Mothers; Organic Cation Transport Proteins; Oxygen; Solute Carrier Family 22 Member 5 | 2006 |
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnostic Errors; Electron-Transferring Flavoproteins; Heterozygote; Humans; Iron-Sulfur Proteins; Male; Mass Spectrometry; Metabolism, Inborn Errors; Middle Aged; Muscular Diseases; Mutation; Oxidoreductases Acting on CH-NH Group Donors | 2006 |
Tandem mass neonatal screening in Taiwan--report from one center.
Topics: Amino Acids; Carnitine; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Taiwan | 2006 |
Long-term stability of amino acids and acylcarnitines in dried blood spots.
Topics: Amino Acids; Blood Specimen Collection; Carnitine; Humans; Infant, Newborn; Linear Models; Metabolism, Inborn Errors; Models, Biological; Neonatal Screening; Time Factors | 2007 |
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.
Topics: Adult; Carnitine; Child, Preschool; Female; Humans; Isomerism; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Spectrometry, Mass, Electrospray Ionization | 2007 |
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Propionates; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2007 |
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Topics: Carnitine; Carnitine Acyltransferases; Dicarboxylic Acids; Diet, Fat-Restricted; Dietary Supplements; Fatty Acids; Humans; Hyperammonemia; Hypoglycemia; Infant; Male; Membrane Transport Proteins; Metabolism, Inborn Errors; Oxidation-Reduction; Pedigree; Phenotype; Severity of Illness Index; Treatment Outcome | 2007 |
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acids; Female; Humans; Iron-Sulfur Proteins; Male; Metabolism, Inborn Errors; Mitochondria, Muscle; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin | 2007 |
Expanded newborn screening in Europe 2007.
Topics: Amino Acids; Carnitine; Europe; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Outcome Assessment, Health Care; Spectrometry, Mass, Electrospray Ionization | 2007 |
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
Topics: Adult; Butyryl-CoA Dehydrogenase; Carnitine; Chromatography, Gas; Humans; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors | 2007 |
Acylcarnitine profile analysis.
Topics: Biomarkers; Carnitine; Genes, Recessive; Genetics, Medical; Humans; Metabolism, Inborn Errors; Prevalence; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2008 |
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Topics: Amino Acids; Biomarkers; Carnitine; Humans; Infant, Newborn; Mass Screening; Mass Spectrometry; Metabolism, Inborn Errors; Prospective Studies | 1999 |
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
Topics: Amino Acids, Branched-Chain; Biological Transport; Carnitine; Carnitine Acyltransferases; Cells, Cultured; Child; Deuterium; Fibroblasts; Humans; Intracellular Membranes; Isoleucine; Mass Spectrometry; Metabolism, Inborn Errors; Mitochondria; Oxidation-Reduction | 2000 |
Determination of urinary acylcarnitines: a complementary aid for the high-risk screening of several organic acidurias using a simple and reliable GC/MS-based method.
Topics: Carboxylic Acids; Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Mass Screening; Mass Spectrometry; Metabolism, Inborn Errors; Reproducibility of Results; Spectrometry, Mass, Fast Atom Bombardment | 2000 |
Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.
Topics: Acidosis; Age of Onset; Brain; Carnitine; Child; Consanguinity; Female; Glutarates; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Mass Spectrometry; Metabolism, Inborn Errors; Tomography, Emission-Computed | 2000 |
Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Pilot Projects | 1999 |
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
Topics: Autopsy; Bile; Blood Specimen Collection; Canada; Carnitine; Fatty Acids; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Oxidation-Reduction; Paper; Reference Values; Spectrometry, Mass, Electrospray Ionization; Sudden Infant Death; United States | 2001 |
More on the metabolic autopsy.
Topics: Amino Acids; Autopsy; Biopsy; Carnitine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Skin; Sudden Infant Death; Urine | 2002 |
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
Topics: Adenosylhomocysteinase; Adult; Choline; DNA Methylation; Erythrocytes; Family Health; Humans; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Muscular Diseases; Mutation, Missense; S-Adenosylhomocysteine; S-Adenosylmethionine | 2006 |
Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine.
Topics: Adult; Child; Child, Preschool; Dopamine; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Metabolism, Inborn Errors; S-Adenosylmethionine; Serotonin; Tetrahydrofolates | 1994 |
Pathogenesis of cobalamin neuropathy: deficiency of nervous system S-adenosylmethionine?
Topics: Child, Preschool; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Nervous System Diseases; S-Adenosylmethionine; Vitamin B 12; Vitamin B 12 Deficiency | 1993 |
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 Diseases; Fibroblasts; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Lymphocytes; Male; Metabolism, Inborn Errors; Methyltransferases; Pregnancy; Prenatal Diagnosis; S-Adenosylmethionine; Skin | 2000 |