mevalonic acid and Abnormalities, Multiple
mevalonic acid has been researched along with Abnormalities, Multiple in 3 studies
Research
Studies (3)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors
Authors | Studies |
---|---|
Bianco, AM; Faletra, F; Girardelli, M; Knowles, A; Marcuzzi, A; Tommasini, A; Vozzi, D; Zauli, G | 1 |
Charpentier, C; Divry, P; Gibson, KM; Hoffmann, GF; Hrebicek, M; Lehnert, W; Leichsenring, M; Mancini, J; Mayatepek, E; Sartor, K | 1 |
Haas, D; Hoffmann, GF; Kelley, RI | 1 |
Reviews
1 review(s) available for mevalonic acid and Abnormalities, Multiple
Article | Year |
---|---|
Inherited disorders of cholesterol biosynthesis.
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
Article | Year |
---|---|
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
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.
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 |