mevalonic acid and Abnormalities, Multiple

mevalonic acid has been researched along with Abnormalities, Multiple in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)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
Charpentier, C; Divry, P; Gibson, KM; Hoffmann, GF; Hrebicek, M; Lehnert, W; Leichsenring, M; Mancini, J; Mayatepek, E; Sartor, K1
Haas, D; Hoffmann, GF; Kelley, RI1

Reviews

1 review(s) available for mevalonic acid and Abnormalities, Multiple

ArticleYear
Inherited disorders of cholesterol biosynthesis.
    Neuropediatrics, 2001, Volume: 32, Issue:3

    Topics: Abnormalities, Multiple; Alleles; Child; Cholesterol; Chondrodysplasia Punctata; Humans; Hypergammaglobulinemia; Immunoglobulin D; Lipid Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Smith-Lemli-Opitz Syndrome

2001

Other Studies

2 other study(ies) available for mevalonic acid and Abnormalities, Multiple

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
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
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