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methylmalonyl-coenzyme a and Amino Acid Metabolism Disorders, Inborn

methylmalonyl-coenzyme a has been researched along with Amino Acid Metabolism Disorders, Inborn in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (16.67)29.6817
2010's1 (16.67)24.3611
2020's4 (66.67)2.80

Authors

AuthorsStudies
Canda, E; Çoker, M; Habif, S; Onay, H; Uçar, SK; Yazıcı, H1
Anvar, Z; Faghihi, MA; Farazi Fard, MA; Habibzadeh, P; Hafizi, A; Jamali, L; Nasr Esfahani, MH; Nikuei, P; Salarian, L; Tabatabaei, Z1
Armstrong, AJ; Chapman, KA; Collado, MS; Figler, RA; Hamilton, CA; Henke, BR; Hoang, SA; Johns, BA; Olson, MW; Pourtaheri, TD; Reardon, JE; Summar, MM; Wamhoff, BR1
Armstrong, AJ; Collado, MS; Dillberger, JE; Figler, RA; Henke, BR; Hoang, SA; Johns, BA; Olson, MW; Pourtaheri, TD; Reardon, JE; Roper, TD; Taylor, JM; Wamhoff, BR1
Gotoh, K; Hotta, Y; Ito, T; Kataoka, T; Kawade, Y; Kimura, K; Maeda, Y; Nakajima, Y; Sugiyama, N; Tajima, G1
Carlucci, F; Rosi, F; Tabucchi, A; Tommassini, V1

Other Studies

6 other study(ies) available for methylmalonyl-coenzyme a and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
    The Turkish journal of pediatrics, 2022, Volume: 64, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Racemases and Epimerases

2022
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
    BMC medical genetics, 2020, 02-03, Volume: 21, Issue:1

    Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Child; Female; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Infant; Infant, Newborn; Iran; Male; Methylmalonyl-CoA Mutase; Mutation, Missense; Phenotype; Pregnancy; Preimplantation Diagnosis

2020
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    Molecular genetics and metabolism, 2021, Volume: 133, Issue:1

    Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Cell Line; Citrates; Hepatocytes; Humans; Methylmalonyl-CoA Decarboxylase; Methylmalonyl-CoA Mutase; Propionic Acidemia; Small Molecule Libraries

2021
Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia.
    Journal of medicinal chemistry, 2021, 04-22, Volume: 64, Issue:8

    Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Animals; Area Under Curve; Butyrates; Cells, Cultured; Dogs; Drug Evaluation, Preclinical; Half-Life; Hepatocytes; Humans; Mice; Models, Biological; Propionic Acidemia; Rats; ROC Curve; Structure-Activity Relationship

2021
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry.
    Analytical and bioanalytical chemistry, 2015, Volume: 407, Issue:18

    Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Enzyme Assays; Female; Humans; Male; Methylmalonyl-CoA Mutase; Sensitivity and Specificity; Tandem Mass Spectrometry; Young Adult

2015
CE assay of methylmalonyl-coenzyme-a mutase activity.
    Electrophoresis, 2007, Volume: 28, Issue:12

    Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Animals; Buffers; Electrophoresis, Capillary; Humans; Liver; Lymphocytes; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Rats; Rats, Wistar; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet

2007