carnitine and glutaric acid

carnitine has been researched along with glutaric acid in 51 studies

Research

Studies (51)

Timeframe	Studies, this research(%)	All Research%
pre-1990	11 (21.57)	18.7374
1990's	14 (27.45)	18.2507
2000's	20 (39.22)	29.6817
2010's	4 (7.84)	24.3611
2020's	2 (3.92)	2.80

Authors

Authors	Studies
Briones, P; Campistol, J; Christensen, E; Millington, DS; Ribes, A; Riudor, E	1
Alvarez, L; Campistol, J; Christensen, E; Millington, DS; Ribes, A	1
Burd, L; Kemp, R; Knull, H; Loveless, D	1
Ichiki, T; Kobayashi, M; Nohara, D; Sakuma, T; Sugiyama, N; Wada, Y	1
Imamura, H; Kuhara, T; Matsumoto, I; Matsumoto, M; Okada, T; Shimao, S; Shinka, T	1
Bell, RB; Brownell, AK; Engel, AG; Frerman, FE; Goodman, SI; Roe, CR; Seccombe, DW; Snyder, FF	1
Africk, D; Blitzer, M; Mandel, H; Shapira, E	1
Iafolla, AK; Kahler, SG	1
Amir, N; Christensen, E; Elpeleg, ON; Shalev, RS	1
Bartlett, K; Shepherd, IM; Sherratt, HS; Turnbull, DM; Watmough, NJ	1
Divry, P; Gregersen, N; Mathieu, M; Vianey-Liaud, C	1
Bartlett, K; Eyre, JA; Fisher, J; Gardner-Medwin, D; Johnson, MA; Turnbull, DM; Watmough, NJ	1
Kidouchi, K; Kobayashi, M; Morishita, H; Nohara, D; Sugiyama, N; Wada, Y	1
Di Donato, S; Frerman, FE; Rimoldi, M; Rinaldo, P; Taroni, F; Wiesmann, UN	1
Booth, F; James, L; Seccombe, DW	1
Bolhuis, PA; de Visser, M; Luyt-Houwen, IE; Oey, PL; Scholte, HR; Schutgens, RB; Vaandrager-Verduin, MH; Veder, HA	1
Blom, W; Giesberts, MA; Mooy, PD; Przyrembel, H; Scholte, HR; van Gelderen, HH	1
Charpentier, C; Harpey, JP; Kamoun, P; Rabier, D; Schlenzig, JS; Sewell, AC	1
Casas, C; Fernández, MA; Martínez-Lage, JF; Poza, M; Puche, A; Rodriguez Costa, T	1
Rohr, F; Warman, ML; Yannicelli, S	1
Aparicio, M; Font, LM; Garcia, MJ; Garzo, C; Lorenzo, G; Martinez Pardo, M; Martinez-Bermejo, A; Merinero, B; Pascual Castroviejo, I; Pérez-Cerdá, C	1
Berkovitz, M; Lerman-Sagie, T; Sela, BA	1
Hartmann, P; Lehnert, W; Razeghi, S; Renner, C; Uberall, MA	1
Blitzer, MG; Boles, RG; Buck, EA; Cowan, TM; Madsen, JA; Martin, SK; Platt, MS; Reyes-Mugica, M; Rinaldo, P; Yoon, H	1
Bonham, JR; Downing, M; Edwards, RG; Manning, NJ; Olpin, SE; Pollitt, RJ; Pourfarzam, M; Sharrard, MJ; Tanner, MS	1
Gunji, T; Koga, Y; Nonaka, I; Shimizu, N; Tojo, M; Yamaguchi, S	1
al-Essa, MA; Bakheet, SM; Ozand, PT; Patay, ZJ; Rashed, MS	1
Prats Viñas, J	1
Corral, I; Gimeno, A; Martínez Castrillo, JC; Martínez-Pardo, M	1
Bähr, O; Dichgans, J; Mader, I; Schulz, JB; Zschocke, J	1
Andresen, BS; Campistol, J; Curcoy, A; Gregersen, N; Olsen, RK; Osorio, JH; Ribes, A; Trenchs, V; Vilaseca, MA	1
Bain, MD; Baric, I; Chalmers, RA; Feyh, P; Hoffmann, GF; Jakobs, C; Jeffrey, I; Kölker, S; Okun, JG; Pourfarzam, M; Schor, DS; Wagner, L; Zschocke, J	1
Lai, CC; Lee, CC; Lin, WD; Tsai, FJ; Wang, CH	1
Brewster, TG; Cowan, TM; Hahn, SH; Matern, D; Rinaldo, P; Tortorelli, S	1
Garcia-Segura, JM; Merinero, B; Pascual-Castroviejo, I; Pascual-Pascual, SI; Ugarte, M; Velazquez, R; Viaño, J	1
Hasegawa, Y; Iga, M; Kimura, M; Shigematsu, Y; Yamaguchi, S	1
Garcia Pérez, A; Martínez Granero, MA; Martínez-Pardo, M; Parra, E	1
Cowan, TM; Enns, GM; Gallagher, RC; Goodman, SI	1
Liu, A; Pasquali, M	1
Gordon, N	1
Beresford, MW; Davidson, JE; Pourfarzam, M; Turnbull, DM	1
Crnic, LR; Fricker, G; Goodman, SI; Harding, CO; Hoffmann, GF; Hörster, F; Koeller, DM; Kölker, S; Mahringer, A; Mühlhausen, C; Müller, I; Okun, JG; Sauer, SW	1
Hedlund, GL; Longo, N; Pasquali, M	1
Cederbaum, SD; Chan, E; Crombez, EA; Goodman, S; Neidich, J; Salazar, D; Spector, E	1
Berger, R; de Sain-van der Velden, MG; Dorland, L; Ruiter, JP; Spliet, WG; Testerink, N; van der Kolk, JH; Votion, DM; Wanders, RJ; Westermann, CM; Wijnberg, ID	1
Alonso, E; Botana, LM; Campbell, K; Chevallier, OP; Duffy, C; Elliott, CT; Graham, SF; Silke, J	1
Behulova, D; Brennerova, K; Bzduch, V; Chandoga, J; Jurickova, K; Lisyova, J; Petrovic, R; Urbanova, D	1
da Silva, JM; de Moura Coelho, D; Deon, M; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M	1
Liu, H; Miao, JK; Wan, KX; Wang, DJ; Yang, J; Yu, CW; Yuan, ZJ; Zeng, Y; Zhang, J; Zou, L	1
Bouchereau, J; Schiff, M	1
Ahmadzada, S; Aktuglu-Zeybek, C; Kiykim, E; Yalcinkaya, C; Zubarioglu, T	1

Reviews

7 review(s) available for carnitine and glutaric acid

Article	Year
A review of the biochemical pathways studied and abnormalities reported in the Rett syndrome. Brain & development, 1990, Volume: 12, Issue:4 Topics: Biogenic Amines; Carnitine; Energy Metabolism; Glutarates; Goals; Humans; Neurotransmitter Agents; Research Support as Topic; Rett Syndrome; Urea	1990
Defects of fatty acid oxidation in skeletal muscle. Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1 Topics: Acyl Coenzyme A; Carnitine; Carnitine O-Palmitoyltransferase; Chromatography, High Pressure Liquid; Fatty Acid Desaturases; Fatty Acids; Glutarates; Kinetics; Lipid Metabolism, Inborn Errors; Mitochondria, Muscle; Oxidation-Reduction	1987
The inborn errors of mitochondrial fatty acid oxidation. Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1 Topics: Carnitine; Diagnosis, Differential; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fatty Acids; Flavoproteins; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Microbodies; Mitochondria; Multienzyme Complexes; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin	1987
Nutrition support for glutaric acidemia type I. Journal of the American Dietetic Association, 1994, Volume: 94, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Dietary Proteins; Female; Food, Formulated; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Male; Mitochondria; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Tryptophan	1994
Glutaric aciduria types I and II. Brain & development, 2006, Volume: 28, Issue:3 Topics: Carnitine; Deficiency Diseases; Genes, Recessive; Glutarates; Glutaryl-CoA Dehydrogenase; Humans	2006
Glutaric acidemia type 1. American journal of medical genetics. Part C, Seminars in medical genetics, 2006, May-15, Volume: 142C, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Carnitine; Glutarates; Glutaryl-CoA Dehydrogenase; Humans	2006
Inherited Disorders of Lysine Metabolism: A Review. The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1 Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Carnitine; Epilepsy; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolic Diseases; Pyridoxal Phosphate; Pyridoxine	2020

Other Studies

44 other study(ies) available for carnitine and glutaric acid

Article	Year
Significance of bound glutarate in the diagnosis of glutaric aciduria type I. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Gas Chromatography-Mass Spectrometry; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Spectrometry, Mass, Fast Atom Bombardment	1992
Glutaric aciduria type I: unusual biochemical presentation. The Journal of pediatrics, 1992, Volume: 121, Issue:1 Topics: Carnitine; Diagnosis, Differential; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Skin	1992
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2. Prenatal diagnosis, 1991, Volume: 11, Issue:2 Topics: Abortion, Induced; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carnitine; Female; Glutarates; Humans; Pregnancy; Prenatal Diagnosis	1991
Organic acid and acylcarnitine profiles of glutaric aciduria type I. Acta paediatrica Japonica : Overseas edition, 1990, Volume: 32, Issue:1 Topics: Acylation; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Male; Spectrophotometry, Atomic	1990
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. Neurology, 1990, Volume: 40, Issue:11 Topics: Acidosis; Adult; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Multienzyme Complexes; Muscular Diseases; Oxidoreductases Acting on CH-NH Group Donors; Reye Syndrome; Riboflavin	1990
The importance of recognizing secondary carnitine deficiency in organic acidaemias: case report in glutaric acidaemia type II. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:4 Topics: Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Fibroblasts; Glutarates; Glycine; Humans; Infant; Iron-Sulfur Proteins; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Sarcosine	1988
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. The Journal of pediatrics, 1989, Volume: 114, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin	1989
Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. The Journal of pediatrics, 1989, Volume: 114, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Carnitine; Child; Child, Preschool; Female; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pedigree; Skin; Tomography, X-Ray Computed	1989
Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy. Developmental medicine and child neurology, 1988, Volume: 30, Issue:5 Topics: Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Glycine; Humans; Infant; Lipid Metabolism; Metabolic Diseases; Muscles; Muscular Diseases; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin	1988
Identification of glutarylcarnitine in glutaric aciduria type 1 by carboxylic acid analyzer with an ODS reverse-phase column. Clinica chimica acta; international journal of clinical chemistry, 1987, May-15, Volume: 164, Issue:3 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Carboxylic Acids; Carnitine; Chromatography; Glutarates; Humans; Infant; Male	1987
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase. Neurology, 1986, Volume: 36, Issue:7 Topics: Acetylcarnitine; Adult; Animals; Carnitine; Cattle; Child; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fibroblasts; Glutarates; Humans; Iron-Sulfur Proteins; Male; Mitochondria; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Swine	1986
L-carnitine treatment in glutaric aciduria type I. Neurology, 1986, Volume: 36, Issue:2 Topics: Carnitine; Child, Preschool; Female; Glutarates; Humans; Time Factors	1986
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology, 1986, Volume: 36, Issue:3 Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Glutarates; Humans; Infant; Lipid Metabolism; Metabolic Diseases; Mitochondria, Muscle; Muscular Diseases; Pedigree; Riboflavin	1986
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. European journal of pediatrics, 1984, Volume: 143, Issue:2 Topics: Biopsy; Carnitine; Fatty Acid Desaturases; Glutarates; Humans; Hypoglycemia; Infant; Insulin; Male; Metabolism, Inborn Errors; Muscle Hypotonia; Muscles; Riboflavin	1984
L-carnitine: a way to decrease cellular toxicity of ifosfamide? European journal of pediatrics, 1995, Volume: 154, Issue:8 Topics: Animals; Carnitine; Dose-Response Relationship, Drug; Female; Glutarates; Humans; Ifosfamide; Injections, Intraperitoneal; Rats; Rats, Wistar	1995
Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 1994, Volume: 10, Issue:3 Topics: Arachnoid Cysts; Brain; Brain Diseases; Carnitine; Dystonia; Female; gamma-Aminobutyric Acid; Glutarates; Humans; Hydrocephalus; Infant; Nerve Degeneration; Psychomotor Disorders; Tomography, X-Ray Computed	1994
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics, 1995, Volume: 26, Issue:5 Topics: Brain; Carnitine; Child, Preschool; Electron Transport; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Muscle, Skeletal; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Spain	1995
[Carnitine deficiency in inborn errors of metabolism]. Harefuah, 1997, Nov-16, Volume: 133, Issue:10 Topics: Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Fatty Acid Desaturases; Female; Glutarates; Hemiterpenes; Humans; Infant; Male; Pentanoic Acids	1997
Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Arachnoid Cysts; Carnitine; Child, Preschool; Female; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Magnetic Resonance Spectroscopy; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors	1997
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. The Journal of pediatrics, 1998, Volume: 132, Issue:6 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Case-Control Studies; Fatty Acids; Female; Glutarates; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver; Male; Neonatal Screening; Oxidation-Reduction; Retrospective Studies; Sudden Infant Death	1998
Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:1 Topics: Acidosis, Renal Tubular; Carnitine; Female; Glutarates; Humans; Infant, Newborn; Male; Pregnancy	1999
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. No to hattatsu = Brain and development, 2000, Volume: 32, Issue:2 Topics: Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; Child; Electron-Transferring Flavoproteins; Fatty Acids; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin	2000
Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. Journal of perinatology : official journal of the California Perinatal Association, 2000, Volume: 20, Issue:2 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
[Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders]. Neurologia (Barcelona, Spain), 2001, Volume: 16, Issue:8 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Carnitine; Child, Preschool; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Lysine; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Tryptophan	2001
[Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability]. Neurologia (Barcelona, Spain), 2001, Volume: 16, Issue:8 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Carnitine; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Tomography, X-Ray Computed	2001
Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology, 2002, Dec-10, Volume: 59, Issue:11 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Carnitine; Electroencephalography; Electrophoresis, Polyacrylamide Gel; Exons; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Magnetic Resonance Imaging; Mutation, Missense; Nervous System Diseases; Neuropsychological Tests; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Sequence Deletion	2002
Late-onset form of beta-electron transfer flavoprotein deficiency. Molecular genetics and metabolism, 2003, Volume: 78, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carnitine; Cysteine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Electrons; Exons; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Gene Deletion; Glutarates; Humans; Infant, Newborn; Iron-Sulfur Proteins; Lysine; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Oxygen; Phenotype	2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics, 2003, Volume: 34, Issue:5 Topics: Acidosis; Acute Disease; Adolescent; Anticonvulsants; Atrophy; Brain; Carnitine; DNA Mutational Analysis; Fatal Outcome; Gas Chromatography-Mass Spectrometry; Gene Expression; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Male; Muscle Hypotonia; N-Methylaspartate; Oxidoreductases Acting on CH-CH Group Donors; Point Mutation; Putamen; Spasm; Vigabatrin	2003
Genetic and biochemical study in a patient with glutaric acidemia type I. Journal of the Formosan Medical Association = Taiwan yi zhi, 2004, Volume: 103, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Male; Mutation; Oxidoreductases Acting on CH-CH Group Donors	2004
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Molecular genetics and metabolism, 2005, Volume: 84, Issue:2 Topics: Carnitine; Case-Control Studies; Glutarates; Humans	2005
[Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age]. Neurologia (Barcelona, Spain), 2005, Volume: 20, Issue:4 Topics: Basal Ganglia; Brain; Brain Chemistry; Brain Diseases, Metabolic, Inborn; Carnitine; Cells, Cultured; Child Development; Child, Preschool; Chromosomes, Human, Pair 19; Corpus Callosum; Female; Fibroblasts; Follow-Up Studies; Glutarates; Glutaryl-CoA Dehydrogenase; Heterozygote; Humans; Intelligence; Lactic Acid; Magnetic Resonance Imaging; Mutation, Missense; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Seizures; Sequence Deletion	2005
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2005, Aug-25, Volume: 823, Issue:1 Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Prenatal Diagnosis; Propionates; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Temperature	2005
[Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis]. Neurologia (Barcelona, Spain), 2005, Volume: 20, Issue:5 Topics: Brain; Brain Diseases, Metabolic; Carnitine; Diagnosis, Differential; Glutarates; Humans; Infant; Magnetic Resonance Imaging; Male; Riboflavin; Time Factors	2005
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Molecular genetics and metabolism, 2005, Volume: 86, Issue:3 Topics: Carnitine; Cells, Cultured; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; Retrospective Studies	2005
Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2005, Dec-05, Volume: 827, Issue:2 Topics: Acetonitriles; Carnitine; Chemical Fractionation; Glutarates; Humans; Isotope Labeling; Mass Spectrometry; Metabolism, Inborn Errors; Methanol; Reproducibility of Results	2005
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:4 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
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Journal of neurochemistry, 2006, Volume: 97, Issue:3 Topics: Amino Acids; Animals; Biological Transport; Blood-Brain Barrier; Blotting, Western; Brain; Carnitine; Cells, Cultured; Dicarboxylic Acids; Disease Models, Animal; Endothelial Cells; Glucose; Glutarates; Glutaryl-CoA Dehydrogenase; Heart; Liver; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Biological; Muscles; Neurodegenerative Diseases; Risk Factors; Statistics, Nonparametric; Swine; Time Factors; Tissue Distribution	2006
Maternal glutaric acidemia, type I identified by newborn screening. Molecular genetics and metabolism, 2008, Volume: 94, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Mutation; Neonatal Screening	2008
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscular disorders : NMD, 2008, Volume: 18, Issue:5 Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Animals; Butyric Acid; Butyryl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Horse Diseases; Horses; Isovaleryl-CoA Dehydrogenase; Lactic Acid; Male; Microscopy, Electron; Microscopy, Fluorescence; Muscles; Muscular Diseases; Riboflavin	2008
New insights into the causes of human illness due to consumption of azaspiracid contaminated shellfish. Scientific reports, 2015, Apr-30, Volume: 5 Topics: Animals; Bivalvia; Carnitine; Cell Line; Cell Line, Tumor; Disease Outbreaks; Foodborne Diseases; Glutarates; HEK293 Cells; Humans; Marine Toxins; Shellfish; Sodium Channels; Spiro Compounds	2015
GAI - distinct genotype and phenotype characteristics in reported Slovak patients. Bratislavske lekarske listy, 2016, Volume: 117, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Brain Diseases, Metabolic; Carnitine; Early Diagnosis; Female; Gas Chromatography-Mass Spectrometry; Genotype; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Male; Mutation, Missense; Phenotype; Sequence Analysis; Slovakia	2016
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. Archives of medical research, 2018, Volume: 49, Issue:3 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
Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report. BMC pediatrics, 2019, 10-09, Volume: 19, Issue:1 Topics: Acidosis; Acyl Coenzyme A; Adipates; Carnitine; Diarrhea; Dicarboxylic Acids; Exome Sequencing; Fatal Outcome; Frameshift Mutation; Glutarates; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Male; Mitochondria; Multiple Organ Failure; Mutation; Respiratory Tract Infections	2019
COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1. Journal of pediatric endocrinology & metabolism : JPEM, 2021, Dec-20, Volume: 34, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Brain Diseases, Metabolic; Carnitine; COVID-19; COVID-19 Testing; Female; Genetic Testing; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; Motor Skills; Movement Disorders; Muscle Hypotonia	2021