mevalonic acid and Intellectual Disability

mevalonic acid has been researched along with Intellectual Disability in 5 studies

Research

Studies (5)

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

Authors

AuthorsStudies
Bianco, AM; Faletra, F; Girardelli, M; Knowles, A; Marcuzzi, A; Tommasini, A; Vozzi, D; Zauli, G1
Yamaguchi, S1
Gibson, KM; Haas, D; Hoffmann, GF; Krastel, H; Mayatepek, E; Prietsch, V; Wanders, RJ; Waterham, HR; Zundel, D1
Bretón Martínez, JR; Cánovas Martínez, A; Casaña Pérez, S; Escribá Alepuz, J; Giménez Vázquez, F1
Charpentier, C; Divry, P; Gibson, KM; Hoffmann, GF; Hrebicek, M; Lehnert, W; Leichsenring, M; Mancini, J; Mayatepek, E; Sartor, K1

Reviews

1 review(s) available for mevalonic acid and Intellectual Disability

ArticleYear
[Organic acid disorders: cerebral organic acidemia].
    Ryoikibetsu shokogun shirizu, 2002, Issue:37 Pt 6

    Topics: Brain Diseases, Metabolic; Canavan Disease; Glutarates; Glycerol; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Mevalonic Acid; Pyrrolidonecarboxylic Acid; Seizures

2002

Other Studies

4 other study(ies) available for mevalonic acid and Intellectual Disability

ArticleYear
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
    Molecular medicine reports, 2015, Volume: 12, Issue:4

    Topics: Abnormalities, Multiple; Child; Databases, Genetic; Exome; Female; Genetic Association Studies; Genetic Diseases, X-Linked; Genetic Markers; Genetic Variation; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Intellectual Disability; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mitochondrial Proteins; Mothers; Mutation, Missense; Phenotype; Phosphotransferases (Alcohol Group Acceptor); ras Proteins; Receptors, Androgen; X Chromosome Inactivation

2015
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
    Pediatrics, 2003, Volume: 111, Issue:2

    Topics: Adolescent; Cerebellar Ataxia; Child; Female; Growth Disorders; Humans; Hypergammaglobulinemia; Immunoglobulin D; Intellectual Disability; Male; Metabolism, Inborn Errors; Mevalonic Acid; Phenotype; Phosphotransferases (Alcohol Group Acceptor); Psychomotor Disorders; Sweet Syndrome

2003
Mevalonic aciduria: report of two cases.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    Topics: Adolescent; Cerebellar Ataxia; Cholesterol; Gait; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Mevalonic Acid; Motor Skills; Muscle Hypotonia; Pedigree; Phosphotransferases (Alcohol Group Acceptor); Seizures; Verbal Behavior; Walking

2007
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
    Pediatrics, 1993, Volume: 91, Issue:5

    Topics: Abnormalities, Multiple; Cerebellar Ataxia; Failure to Thrive; Female; Humans; Infant; Intellectual Disability; Lovastatin; Male; Mevalonic Acid; Phenotype; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor); Prednisone

1993