3-methylglutaconic acid has been researched along with Metabolism, Inborn Errors in 27 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (7.41) | 18.7374 |
| 1990's | 9 (33.33) | 18.2507 |
| 2000's | 7 (25.93) | 29.6817 |
| 2010's | 6 (22.22) | 24.3611 |
| 2020's | 3 (11.11) | 2.80 |
| Authors | Studies |
|---|---|
| Banerjee, R; Cooper, H; Fellman, V; Kallijärvi, J; Lin, KL; Pulli, I; Tyynismaa, H | 1 |
| Adorisio, R; Baban, A; Calì, F; Carrozzo, R; Corica, B; Dallapiccola, B; Dionisi-Vici, C; Drago, F; Magliozzi, M; Parisi, F; Rizzo, C; Semeraro, M; Taurisano, R; Vaz, FM | 1 |
| Pyrkosz, A; Sykut-Cegielska, J; Zapolnik, P | 1 |
| Ryan, RO; Su, B | 1 |
| Anikster, Y; Blumkin, L; Carmi, N; Kivity, S; Lerman-Sagie, T; Leshinsky-Silver, E; Lev, D; Zerem, A | 1 |
| Christodoulou, J; Ho, G; Walter, JH | 1 |
| de Vries, MC; Engelke, UF; Heldt, K; Huizing, M; Jonckheere, A; Kluijtmans, LA; Morava, E; Rodenburg, RJ; Smeitink, JA; van den Heuvel, LP; Wendel, U; Wevers, RA; Wortmann, SB | 1 |
| Engelke, UF; Kluijtmans, LA; Morava, E; Wevers, RA; Wortmann, SB | 1 |
| Casey, B; Mercimek-Mahmutoglu, S; Tucker, T | 1 |
| Anikster, Y; Barth, PG; Duran, M; Morava, E; Sperl, W; Wevers, RA; Wortmann, SB; Zschocke, J | 1 |
| Alkuraya, FS; de Vries, MC; Isohanni, P; Kleefstra, T; Kluijtmans, LA; Morava, E; Nouws, J; Reinecke, CJ; Rodenburg, RJ; Sass, JO; Smeitink, JA; Smuts, I; Thorburn, D; Tranebjaerg, L; van der Westhuizen, FH; van Kaauwen, EP; Walter, K; Wevers, RA; Wortmann, SB | 1 |
| Laube, GF; Leonard, JV; van't Hoff, WG | 1 |
| Matsumori, M; Shoji, Y; Takada, G; Takahashi, T | 1 |
| Arn, P; Funanage, VL | 1 |
| Elhasid, R; Gershoni-Baruch, R; Haimi, M; Izraeli, S; Mandel, H; Wanders, RJ | 1 |
| Hagberg, B; Hjalmarson, O; Lindstedt, S; Ransnäs, L; Steen, G | 1 |
| Deufel, T; Duran, M; Endres, W; Gibson, KM; Hadorn, HB; Ibel, H; Kennaway, NG; Paetzke, I | 1 |
| al Aqeel, A; al Odaib, A; Brismar, J; Dabbagh, O; Gascon, GG; Ozand, PT; Rashed, M | 1 |
| Brismar, J; Gascon, GG; Ozand, PT | 1 |
| Bremer, HJ; Lichter-Konecki, U; Munnich, A; Pfeil, A; Rötig, A; Trefz, FK | 1 |
| Yoshida, I | 1 |
| De Meirleir, L; Desprechins, B; Erasmus, E; Gerlo, E; Gibson, KM; Jooste, S; Mienie, LJ; Wappner, RS | 1 |
| D'Arrigo, S; D'Incerti, L; Pantaleoni, C; Rimoldi, M; Riva, D | 1 |
| Greter, J; Holme, E; Jacobson, CE; Larsson, NG; Lindstedt, S; Nilsson, KO; Oldfors, A; Tulinius, M | 1 |
| Chemke, J; Chitayat, D; Gibson, KM; Kronick, JB; Mamer, OA; McGill, JJ; Rosenblatt, B; Scriver, CR; Sweetman, L | 1 |
| Bakkeren, JA; Ruitenbeek, W; Sengers, RC; Trijbels, JM | 1 |
| Buchanan, DN; Thoene, JG | 1 |
6 review(s) available for 3-methylglutaconic acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
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 |
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.
Topics: Acetyl Coenzyme A; Acyl Coenzyme A; Animals; Cardiolipins; Chorea; Citric Acid Cycle; Glutarates; Humans; Metabolism, Inborn Errors; Mitochondrial Proteins; Optic Atrophy; Phosphatidylglycerols; Smith-Lemli-Opitz Syndrome; Spastic Paraplegia, Hereditary; Terpenes | 2014 |
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Topics: Adolescent; Adolescent Development; Biomarkers; Chorea; Codon, Nonsense; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Glutarates; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Optic Atrophy; Pedigree; Phenotype; Proteins; Spastic Paraplegia, Hereditary | 2008 |
The 3-methylglutaconic acidurias: what's new?
Topics: Biomedical Research; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Magnetic Resonance Spectroscopy; Metabolism, Inborn Errors; Mitochondria; Models, Biological | 2012 |
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
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 |
[X-linked 3-methylglutaconic aciduria (normal hydratase)].
Topics: Biomarkers; Cholesterol; Diagnosis, Differential; Glutarates; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Prognosis; X Chromosome | 1998 |
21 other study(ies) available for 3-methylglutaconic acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Topics: Calcium; Carboxylic Ester Hydrolases; Cholesterol; Endoplasmic Reticulum; Female; Glutarates; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mitochondria, Liver; Mitochondrial Diseases; Whole Genome Sequencing | 2022 |
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Topics: Acyltransferases; Adult; Age of Onset; Barth Syndrome; Cardiomyopathies; Child; Female; Glutarates; Humans; Infant; Infant, Newborn; Male; Membrane Proteins; Metabolic Syndrome; Metabolism, Inborn Errors; Mitochondrial Proteins; Mutation; Transcription Factors | 2020 |
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Topics: Basal Ganglia Diseases; Child, Preschool; Chorea; Consanguinity; Electroencephalography; Female; Glutarates; Humans; Jews; Metabolism, Inborn Errors; Muscle Spasticity; Optic Atrophy; Proteins; Psychomotor Agitation; Seizures; Sleep; Spastic Paraplegia, Hereditary; Status Epilepticus | 2015 |
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Topics: Adenosine Triphosphatases; Brain; Brain Diseases, Metabolic, Inborn; Cardiomyopathies; Carrier Proteins; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Facies; Female; Glutarates; Humans; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Membrane Proteins; Metabolism, Inborn Errors; Mitochondrial Diseases; Mitochondrial Proteins; Mitochondrial Proton-Translocating ATPases; Mutation; Phenotype; Ryanodine Receptor Calcium Release Channel | 2009 |
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
Topics: Adolescent; Base Sequence; Child; Enoyl-CoA Hydratase; Female; Glutarates; Humans; Hydro-Lyases; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Phenotype; RNA-Binding Proteins; Sequence Analysis, DNA; Siblings | 2011 |
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; DNA Mutational Analysis; Glutarates; Humans; Metabolism, Inborn Errors; Mitochondrial Diseases; Netherlands; Retrospective Studies; Urinalysis | 2013 |
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria.
Topics: Child; Female; Glutarates; Humans; Kidney Diseases, Cystic; Kidney Medulla; Metabolism, Inborn Errors; Nephrocalcinosis; Ultrasonography | 2003 |
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.
Topics: Atrophy; Child, Preschool; Enoyl-CoA Hydratase; Glutarates; Humans; Male; Metabolism, Inborn Errors; Pedigree; Phenotype; RNA-Binding Proteins; Telencephalon | 2005 |
3-methylglutaconic aciduria disorders: the clinical spectrum increases.
Topics: Acyltransferases; Cardiomyopathies; Consanguinity; Glutarates; Humans; Hydro-Lyases; Male; Metabolism, Inborn Errors; Myelodysplastic Syndromes; Phenotype; Proteins; Transcription Factors | 2006 |
Myeloid dysplasia in familial 3-methylglutaconic aciduria.
Topics: Child, Preschool; Chromosomes, Human, Pair 7; Consanguinity; Ethnicity; Female; Glutarates; Humans; Infant; Intellectual Disability; Israel; Leukemia, Myeloid, Acute; Male; Metabolism, Inborn Errors; Monosomy; Myelodysplastic Syndromes; Pedigree; Thrombocytopenia | 2006 |
3-Methylglutaconic aciduria in two infants.
Topics: Creatinine; Female; Fibroblasts; Glutarates; Hemiterpenes; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Leucine; Leukocytes; Meglutol; Metabolism, Inborn Errors; Pentanoic Acids | 1983 |
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.
Topics: Acidosis, Lactic; Cardiomyopathy, Hypertrophic; Electron Transport Complex IV; Glutarates; Humans; Hydro-Lyases; Infant; Leucine; Male; Meglutol; Metabolism, Inborn Errors; Mitochondrial Myopathies; Respiration Disorders | 1993 |
3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.
Topics: Acidosis; Basal Ganglia Diseases; Child, Preschool; Female; Glutarates; Humans; Infant; Male; Metabolism, Inborn Errors; Nervous System Diseases; Phenotype; Ubiquinone | 1994 |
Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations.
Topics: Acidosis; Basal Ganglia; Brain; Child; Child, Preschool; Dystonia; Female; Glutarates; Humans; Infant; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Movement Disorders; Muscle Rigidity; Myoclonus; Necrosis; Propionates; Tomography, X-Ray Computed | 1994 |
3-Methylglutaconic aciduria in a patient with Pearson syndrome.
Topics: Child, Preschool; Female; Glutarates; Humans; Metabolism, Inborn Errors | 1993 |
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.
Topics: Adolescent; Brain; Developmental Disabilities; Female; Glutarates; Humans; Hydro-Lyases; Infant; Leucine; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors | 1998 |
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy.
Topics: Cerebral Palsy; Child, Preschool; Diagnosis, Differential; Glutarates; Humans; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors | 2000 |
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.
Topics: Acidosis, Lactic; Cardiomyopathy, Hypertrophic; DNA Mutational Analysis; DNA, Mitochondrial; Female; Glutarates; Humans; Infant; Metabolism, Inborn Errors; Mitochondria, Muscle; Proton-Translocating ATPases | 1992 |
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').
Topics: Amniotic Fluid; Child; Female; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Male; Meglutol; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis | 1992 |
3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism.
Topics: Energy Metabolism; Glutarates; Humans; Infant; Male; Metabolism, Inborn Errors; Mitochondria | 1992 |
Photodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria.
Topics: Chromatography, High Pressure Liquid; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Infant, Newborn; Meglutol; Metabolism, Inborn Errors; Spectrophotometry | 1986 |