mevalonic acid has been researched along with Inborn Errors of Metabolism in 24 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 8 (33.33) | 18.7374 |
1990's | 9 (37.50) | 18.2507 |
2000's | 7 (29.17) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Yamaguchi, S | 1 |
Arai, T; Fujioka, M; Imada, I; Kim, H; Nakayama, M; Narahara, C; Okamoto, N; Toda, S | 1 |
Gibson, KM; Haas, D; Hoffmann, GF; Krastel, H; Mayatepek, E; Prietsch, V; Wanders, RJ; Waterham, HR; Zundel, D | 1 |
Duran, M; Houten, SM; Raupp, P; Varady, E; Wanders, RJ; Waterham, HR | 1 |
Cuisset, L; Guffon, N; Le Bozec, J; Rolland, MO; Vianey-Saban, C | 1 |
Haas, D; Hoffmann, GF | 1 |
Blanche, S; Cavazzana-Calvo, M; Cuisset, L; de Lonlay, P; Debré, M; Fischer, A; Neven, B; Prieur, AM; Quartier, P; Rabier, D; Rolland, MO; Valayannopoulos, V | 1 |
Abinun, M; Arkwright, PD; Cant, AJ | 1 |
Charpentier, C; Finckh, B; Gibson, KM; Hoffmann, GF; Hübner, C; Kohlschütter, A; Lehr, HA; Puhl, H | 1 |
Gibson, KM; Hoffmann, GF; Hrebicek, M; Jakobs, C; Rating, D; Stellaard, F | 1 |
Chambliss, KL; Gibson, KM; Hinson, DD; Hoffmann, GF; Keller, RK; Krisans, S | 1 |
Yoshida, I | 2 |
Fingerhut, R; Gibson, KM; Hinson, DD; Hoffmann, GF; Kelley, RI; Kohlschutter, A; Rogers, ZR; Schachtele, M | 1 |
Brendel, SU; Gibson, KM; Hoffmann, GF; Scharfschwerdt, SR; Shin, YS; Speidel, IM | 1 |
Bishop, RW; Gibson, KM; Kalinowski, SS; Kratunis, VJ; Mosley, ST; Schafer, BL; Tanaka, RD | 1 |
Bader, PI; Brandt, IK; Broock, RL; Gibson, KM; Hoffmann, G; Lohr, JL; Nyhan, WL; Sweetman, L; Wappner, RS | 1 |
Gibson, KM; Hoffmann, G; Nyhan, WL; Sweetman, L | 1 |
Bader, PI; Brandt, IK; Gibson, KM; Hoffmann, G; Sweetman, L; Wappner, RS | 1 |
Brouwers, HA; Bruinvis, L; de Klerk, JB; Dorland, L; Duran, M; Ketting, D | 1 |
Keller, RK; Simonet, WS | 1 |
Berger, R; Bijsterveld, K; le Coultre, R; Schierbeek, H; Smit, GP | 1 |
Lenk, W | 1 |
Folkers, K | 1 |
5 review(s) available for mevalonic acid and Inborn Errors of Metabolism
Article | Year |
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[Organic acid disorders: cerebral organic acidemia].
Topics: Brain Diseases, Metabolic; Canavan Disease; Glutarates; Glycerol; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Mevalonic Acid; Pyrrolidonecarboxylic Acid; Seizures | 2002 |
[X-linked 3-methylglutaconic aciduria (normal hydratase)].
Topics: Biomarkers; Cholesterol; Diagnosis, Differential; Glutarates; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Prognosis; X Chromosome | 1998 |
[Mevalonic aciduria].
Topics: Diagnosis, Differential; Humans; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Prognosis | 1998 |
Nutritional and metabolic aspects of heredopathia atactica polyneuritiformis (Refsum's syndrome).
Topics: Carbon Radioisotopes; Diet; Diet Therapy; Dietary Fats; Diterpenes; Fatty Acids; Food Analysis; Humans; Hydroxylation; Metabolism, Inborn Errors; Mevalonic Acid; Nerve Tissue; Refsum Disease | 1974 |
Survey on the vitamin aspects of coenzyme Q.
Topics: Animals; Avitaminosis; Benzoates; Binding Sites; Electron Transport; Folic Acid; Haplorhini; Humans; Lipid Metabolism; Metabolism, Inborn Errors; Mevalonic Acid; Mice; Muscular Dystrophies; Oxidoreductases; Peroxides; Rabbits; Rats; Saccharomyces; Semantics; Succinate Dehydrogenase; Ubiquinone; Vitamin E Deficiency; Vitamins | 1969 |
19 other study(ies) available for mevalonic acid and Inborn Errors of Metabolism
Article | Year |
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Mevalonic acidemia: first case of Japan.
Topics: Fatal Outcome; Female; Humans; Infant, Newborn; Japan; Male; Metabolism, Inborn Errors; Mevalonic Acid; Pedigree; Phosphotransferases (Alcohol Group Acceptor) | 1997 |
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
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 |
Novel genotype of mevalonic aciduria with fatalities in premature siblings.
Topics: DNA Mutational Analysis; Fatal Outcome; Female; Genotype; Humans; Infant, Newborn; Infant, Premature, Diseases; Infant, Very Low Birth Weight; Male; Metabolism, Inborn Errors; Mevalonic Acid; Mutation; Phosphotransferases (Alcohol Group Acceptor) | 2004 |
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
Topics: Chorionic Villi; Consanguinity; Creatinine; DNA; Exons; Female; Fibroblasts; Genotype; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Mevalonic Acid; Mutation; Phosphotransferases (Alcohol Group Acceptor); Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Risk; Serine | 2005 |
Mevalonate kinase deficiency and autoinflammatory disorders.
Topics: Bone Marrow Transplantation; Cholesterol; Fever; Humans; Inflammation; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Protein Prenylation; Transplantation, Homologous; Ubiquinone | 2007 |
Allogeneic bone marrow transplantation in mevalonic aciduria.
Topics: Biomarkers; Bone Marrow Transplantation; Child, Preschool; Cytokines; Failure to Thrive; Fever; Humans; Inflammation; Male; Metabolism, Inborn Errors; Mevalonic Acid; Mutation, Missense; Phosphotransferases (Alcohol Group Acceptor); Transplantation, Homologous | 2007 |
Mevalonic aciduria cured by bone marrow transplantation.
Topics: Bone Marrow Transplantation; Child; Graft vs Host Disease; Hematopoietic Stem Cell Transplantation; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Transplantation, Homologous | 2007 |
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Topics: Cells, Cultured; Child; Child, Preschool; Creatine Kinase; Dolichols; Female; Fibroblasts; Humans; Infant; Lipoproteins, LDL; Male; Metabolism, Inborn Errors; Mevalonic Acid; Oxidation-Reduction; Phosphotransferases (Alcohol Group Acceptor); Ubiquinone; Vitamin E | 1993 |
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
Topics: Bile Acids and Salts; Female; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor) | 1993 |
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Topics: Alanine; Alleles; Binding Sites; Homozygote; Humans; Kinetics; Lymphocytes; Metabolism, Inborn Errors; Mevalonic Acid; Mutation; Phosphotransferases (Alcohol Group Acceptor) | 1997 |
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Topics: Anemia; Cholestasis, Intrahepatic; Cholesterol; Hematologic Diseases; Hepatomegaly; Heterozygote; Humans; Hyperbilirubinemia; Infant, Newborn; Leukocytosis; Male; Metabolism, Inborn Errors; Mevalonic Acid; Phenotype; Phosphotransferases (Alcohol Group Acceptor); Splenomegaly; Thrombocytopenia | 1998 |
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
Topics: Chorionic Villi; Chromatography, DEAE-Cellulose; Chromatography, Ion Exchange; Chromatography, Thin Layer; Female; Fibroblasts; Humans; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor); Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis | 1992 |
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Topics: Amino Acid Sequence; Autoradiography; Base Sequence; Blotting, Northern; Blotting, Southern; Cell Line, Transformed; Cells, Cultured; Cloning, Molecular; DNA; Humans; Metabolism, Inborn Errors; Mevalonic Acid; Molecular Sequence Data; Mutation; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor); RNA; Sequence Homology, Nucleic Acid | 1992 |
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.
Topics: Cells, Cultured; Female; Fibroblasts; Humans; Kinetics; Lymphocytes; Male; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor); Reference Values | 1989 |
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
Topics: Cholesterol; Fibroblasts; Humans; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor) | 1988 |
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
Topics: Amniotic Fluid; Cataract; Child, Preschool; Cholesterol; Failure to Thrive; Female; Fetal Diseases; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases; Phosphotransferases (Alcohol Group Acceptor); Pregnancy; Prenatal Diagnosis; Sterols; Terpenes | 1986 |
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.
Topics: Anemia; Female; Hepatomegaly; Humans; Infant, Newborn; Leukocytosis; Metabolism, Inborn Errors; Mevalonic Acid; Splenomegaly; Thrombocytopenia | 1988 |
Near normal levels of isoprenoid lipids in severe mevalonic aciduria.
Topics: Cholesterol; Dolichol Phosphates; Female; Fetal Diseases; Humans; Hydroxymethylglutaryl CoA Reductases; Liver; Male; Metabolism, Inborn Errors; Mevalonic Acid; Polyisoprenyl Phosphates; Pregnancy; Squalene | 1988 |
Mevalonic aciduria: an inborn error of cholesterol biosynthesis?
Topics: Cerebellar Ataxia; Child; Cholesterol; Gas Chromatography-Mass Spectrometry; Glucose Tolerance Test; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid | 1985 |