Page last updated: 2024-10-16

carnitine and Genetic Diseases

carnitine has been researched along with Genetic Diseases in 5 studies

Research Excerpts

ExcerptRelevanceReference
"Acyl-carnitines (C2-C16) were analysed as their p-bromophenacyl derivatives by reverse-phase high performance liquid chromatography using a ternary gradient of acetonitrile/water/triethylamine phosphate."1.28The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. ( Aynsley-Green, A; Bartlett, K; Bhuiyan, AK; Jackson, S; Leonard, JV; Turnbull, DM, 1992)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (60.00)18.2507
2000's1 (20.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Snyder, FF1
Carter, RJ1
Fung, E1
Hodges, SD1
Mantik, KB1
Valayannopoulos, V1
Haudry, C1
Serre, V1
Barth, M1
Boddaert, N1
Arnoux, JB1
Cormier-Daire, V1
Rio, M1
Rabier, D1
Vassault, A1
Munnich, A1
Bonnefont, JP1
de Lonlay, P1
Rötig, A1
Lebre, AS1
Maresca, P1
Mancinelli, R1
Corsico, N1
Arrigoni-Martelli, E1
Manni, E1
Shoji, Y1
Koizumi, A1
Kayo, T1
Ohata, T1
Takahashi, T1
Harada, K1
Takada, G1
Bhuiyan, AK1
Jackson, S1
Turnbull, DM1
Aynsley-Green, A1
Leonard, JV1
Bartlett, K1

Other Studies

5 other studies available for carnitine and Genetic Diseases

ArticleYear
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
    Nucleosides, nucleotides & nucleic acids, 2008, Volume: 27, Issue:6

    Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Amino Acids; Carnitine; Dihydropyrimidine De

2008
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
    Mitochondrion, 2010, Volume: 10, Issue:4

    Topics: Adolescent; Animals; Basal Ganglia; Carnitine; Child; Child, Preschool; Female; Genetic Diseases, In

2010
Positive action of propionyl-L-carnitine on mechanical performance of papillary muscle from Syrian hamsters with hereditary dilated cardiomyopathy.
    European journal of pharmacology, 1995, Dec-20, Volume: 287, Issue:3

    Topics: Administration, Oral; Analysis of Variance; Animals; Biomechanical Phenomena; Cardiomyopathy, Dilate

1995
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.
    American journal of human genetics, 1998, Volume: 63, Issue:1

    Topics: Carnitine; Child; Chromosomes, Human, Pair 5; Female; Genes, Dominant; Genetic Diseases, Inborn; Gen

1998
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
    Clinica chimica acta; international journal of clinical chemistry, 1992, May-15, Volume: 207, Issue:3

    Topics: Aging; Carnitine; Child, Preschool; Fasting; Fatty Acids; Fatty Acids, Nonesterified; Genetic Diseas

1992