Page last updated: 2024-08-26

3-methylglutaconic acid and Abnormalities, Multiple

3-methylglutaconic acid has been researched along with Abnormalities, Multiple in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19901 (20.00)18.7374
1990's0 (0.00)18.2507
2000's1 (20.00)29.6817
2010's2 (40.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Pyrkosz, A; Sykut-Cegielska, J; Zapolnik, P1
Morava, E; Wortmann, SB1
Anikster, Y; Barth, PG; Duran, M; Morava, E; Sperl, W; Wevers, RA; Wortmann, SB; Zschocke, J1
Gunay-Aygun, M1
Brown, GK; Haan, EA; Pitt, JJ; Scholem, RD; Wraith, JE1

Reviews

3 review(s) available for 3-methylglutaconic acid and Abnormalities, Multiple

ArticleYear
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
    Acta biochimica Polonica, 2020, Jun-08, Volume: 67, Issue:2

    Topics: Abnormalities, Multiple; Adolescent; Ammonia; Chromosomes, Human, Pair 5; Comparative Genomic Hybridization; Cri-du-Chat Syndrome; Glutarates; High-Throughput Nucleotide Sequencing; Humans; Male; Metabolism, Inborn Errors; Rare Diseases; Trisomy

2020
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:6

    Topics: Abnormalities, Multiple; Barth Syndrome; Cardiomyopathy, Dilated; Cerebellar Ataxia; Chorea; Diagnosis, Differential; Glutarates; Humans; Metabolism, Inborn Errors; Optic Atrophy; Spastic Paraplegia, Hereditary; Terminology as Topic

2013
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
    Molecular genetics and metabolism, 2005, Volume: 84, Issue:1

    Topics: Abnormalities, Multiple; Acetyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Hydro-Lyases; Leucine; Mitochondrial Diseases; Sterols

2005

Other Studies

2 other study(ies) available for 3-methylglutaconic acid and Abnormalities, Multiple

ArticleYear
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype.
    Clinical dysmorphology, 2011, Volume: 20, Issue:3

    Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Phenotype; Syndrome

2011
Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.
    European journal of pediatrics, 1987, Volume: 146, Issue:5

    Topics: Abnormalities, Multiple; Acidosis; Acidosis, Lactic; Child, Preschool; Citric Acid Cycle; Follow-Up Studies; Glutarates; Humans; Infant; Male; Meglutol; Virus Diseases

1987