Page last updated: 2024-09-05

butyrylcarnitine and Inborn Errors of Metabolism

butyrylcarnitine has been researched along with Inborn Errors of Metabolism in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
An, Y; Bali, D; Benjamin, DK; Chaing, SH; Chen, YT; Gregersen, NS; Kishnani, PS; Koeberl, DD; McDonald, MT; Millington, DS; Smith, WE; Vockley, J; Weavil, SD; Young, SP1
Gordon, N1
Duran, M; Hogeveen, M; Ijlst, L; Niezen-Koning, KE; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA1
Beattie, SG; Campbell-Thompson, M; Conlon, T; Flotte, TR; Germain, S; Goetzman, E; Matern, D; Vockley, J; Walter, G1

Other Studies

4 other study(ies) available for butyrylcarnitine and Inborn Errors of Metabolism

ArticleYear
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
    Pediatric research, 2003, Volume: 54, Issue:2

    Topics: Butyryl-CoA Dehydrogenase; Carnitine; Cells, Cultured; Fibroblasts; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors

2003
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
    Developmental medicine and child neurology, 2005, Volume: 47, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Chromosome Aberrations; Developmental Disabilities; Diagnosis, Differential; Electron-Transferring Flavoproteins; Female; Genes, Recessive; Genetic Variation; Humans; Hypoglycemia; Infant; Infant, Newborn; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Nervous System Diseases; Pregnancy; Prenatal Diagnosis; Prognosis; Succinates; Sudden Infant Death

2005
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
    JAMA, 2006, Aug-23, Volume: 296, Issue:8

    Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; Child; Child, Preschool; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Netherlands; Phenotype; Retrospective Studies; Riboflavin; Vitamin B Complex

2006
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.
    Human gene therapy, 2008, Volume: 19, Issue:6

    Topics: Actins; Animals; Butyryl-CoA Dehydrogenase; Carnitine; Cytomegalovirus; Dependovirus; Genetic Therapy; Genetic Vectors; Injections, Intravenous; Liver; Metabolism, Inborn Errors; Mice; Mice, Mutant Strains; Portal Vein; Promoter Regions, Genetic; Transduction, Genetic

2008