mevalonic acid and Metabolism, Inborn Errors

mevalonic acid has been researched along with Metabolism, Inborn Errors in 24 studies

Research

Studies (24)

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

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

Reviews

5 review(s) available for mevalonic acid and Metabolism, Inborn Errors

Article	Year
[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
[X-linked 3-methylglutaconic aciduria (normal hydratase)]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Biomarkers; Cholesterol; Diagnosis, Differential; Glutarates; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid; Prognosis; X Chromosome	1998
[Mevalonic aciduria]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 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). Nutrition and metabolism, 1974, Volume: 16, Issue:6 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. Internationale Zeitschrift fur Vitaminforschung. International journal of vitamin research. Journal international de vitaminologie, 1969, Volume: 39, Issue:3 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

Other Studies

19 other study(ies) available for mevalonic acid and Metabolism, Inborn Errors

Article	Year
Mevalonic acidemia: first case of Japan. The Japanese journal of human genetics, 1997, Volume: 42, Issue:3 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. 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
Novel genotype of mevalonic aciduria with fatalities in premature siblings. Archives of disease in childhood. Fetal and neonatal edition, 2004, Volume: 89, Issue:1 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. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 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. The New England journal of medicine, 2007, Jun-28, Volume: 356, Issue:26 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. The New England journal of medicine, 2007, Jun-28, Volume: 356, Issue:26 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. The New England journal of medicine, 2007, 09-27, Volume: 357, Issue:13 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. Pediatric research, 1993, Volume: 34, Issue:2 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. Clinica chimica acta; international journal of clinical chemistry, 1993, Aug-31, Volume: 217, Issue:2 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. The Journal of biological chemistry, 1997, Oct-17, Volume: 272, Issue:42 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. American journal of medical genetics, 1998, Aug-06, Volume: 78, Issue:5 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. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:5 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. The Journal of biological chemistry, 1992, Jul-05, Volume: 267, Issue:19 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. Enzyme, 1989, Volume: 41, Issue:1 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. Journal of inherited metabolic disease, 1988, Volume: 11 Suppl 2 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. The New England journal of medicine, 1986, Jun-19, Volume: 314, Issue:25 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. Journal of inherited metabolic disease, 1988, Volume: 11 Suppl 2 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. Biochemical and biophysical research communications, 1988, Apr-29, Volume: 152, Issue:2 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? Clinica chimica acta; international journal of clinical chemistry, 1985, Oct-31, Volume: 152, Issue:1-2 Topics: Cerebellar Ataxia; Child; Cholesterol; Gas Chromatography-Mass Spectrometry; Glucose Tolerance Test; Humans; Male; Metabolism, Inborn Errors; Mevalonic Acid	1985