methylmalonic acid and cobamamide

methylmalonic acid has been researched along with cobamamide in 27 studies

Research

Studies (27)

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (14.81)	18.7374
1990's	10 (37.04)	18.2507
2000's	10 (37.04)	29.6817
2010's	3 (11.11)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Rosenblatt, DS	1
Bain, MD; Chalmers, RA; Mistry, J; Tracey, BM; Weaver, C	1
Cooper, BA; Rosenblatt, DS; Watkins, D	1
Barltrop, D; Bhatt, HR; Linnell, JC	1
Mahoney, MJ; Matsui, SM; Rosenberg, LE	1
Bartlett, K; Causey, AG	1
Batshaw, ML; Cohen, SR; Mahoney, MJ; Matalon, R; Thomas, GH	1
Baumgarter, ER; Viardot, C	1
Cooper, BA; Qureshi, AA; Rosenblatt, DS	1
Chadefaux-Vekemans, B; Divry, P; Kamoun, P; Lyonnet, S; Rabier, D; Rolland, MO	1
Leadlay, PF; Thomä, NH	1
Yoshino, M	1
Ben Hamida, M; Debbabi, A; Hentati, F; Kaabachi, N; Khiari, D; Larnaout, A; Mebazza, A; Mongalgi, MA	1
Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J	1
Ballou, DP; Dunham, WR; Marsh, EN; Moon, N; Roymoulik, I	1
Hisaeda, Y	1
Biancheri, R; Caruso, U; Cerone, R; Gatti, R; Perrone, MV; Rossi, A; Schiaffino, MC; Veneselli, E	1
Boneh, A; Garra, G; Greaves, RF; Pitt, JJ	1
Benoist, JF; Bolgert, F; Demeret, S; Gervais, D; Ogier de Baulny, H; Pierrot-Deseilligny, C; Roze, E; Said, G; Zittoun, J	1
Dobson, CM; Doré, C; Gravel, RA; Leclerc, D; Lepage, P; Lerner-Ellis, JP; Rosenblatt, DS; Tirone, JC; Wai, T; Watkins, D	1
Burke, J; Coman, D; Huang, J; McGill, J; McTaggart, S; Ohura, T; Sakamoto, O	1
Baumgartner, ER; Baumgartner, MR; Burgard, P; Fowler, B; Garbade, SF; Hoffmann, GF; Hörster, F; Kölker, S; Suormala, T; Viardot, C	1
Baumgartner, MR; Fowler, B; Leonard, JV	1
Banerjee, R; Padovani, D	1
Froese, DS; Gravel, RA; Healy, S; Kochan, G; McDonald, M; Niesen, FH; Oppermann, U	1
Rosenblatt, DS; Watkins, D	1
Baumgartner, MR; Burda, P; Fowler, B; Froese, DS; Jusufi, J; Suormala, T	1

Reviews

5 review(s) available for methylmalonic acid and cobamamide

Article	Year
Vitamin B12 (Cbl)-responsive disorders. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Cobamides; Humans; Lysosomes; Metabolism, Inborn Errors; Methylmalonic Acid; NADH, NADPH Oxidoreductases; Vitamin B 12	1992
Inherited disorders of cobalamin metabolism. Critical reviews in oncology/hematology, 1994, Volume: 17, Issue:2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Animals; Bacterial Proteins; Biological Evolution; Biological Transport; Cells, Cultured; Child; Cobamides; Female; Fibroblasts; Genes; Genetic Complementation Test; Homocystinuria; Humans; Incidence; Infant, Newborn; Intestinal Absorption; Intrinsic Factor; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mice; Transcobalamins; Vitamin B 12; Vitamin B Deficiency	1994
[Defects in adenosylcobalamin biosynthesis]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Cobamides; Diagnosis, Differential; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Prognosis; Vitamin B 12	1998
[Artificial enzymes based on supramolecular chemistry]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 2000, Volume: 45, Issue:15 Topics: Apoproteins; Biochemical Phenomena; Biochemistry; Biotechnology; Cobamides; Crystallography, X-Ray; Membranes, Artificial; Methylmalonic Acid; Models, Molecular; Recombinant Proteins; Succinic Acid	2000
Causes of and diagnostic approach to methylmalonic acidurias. Journal of inherited metabolic disease, 2008, Volume: 31, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Genetic Complementation Test; Humans; Methylmalonic Acid; Mutation; Racemases and Epimerases; Succinate-CoA Ligases; Vitamin B 12	2008

Trials

2 trial(s) available for methylmalonic acid and cobamamide

Article	Year
Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient. Pediatric research, 1991, Volume: 30, Issue:6 Topics: Alkyl and Aryl Transferases; Cell Line; Cobamides; Female; Fibroblasts; Humans; Hydroxocobalamin; Infant; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Transferases	1991
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Archives of neurology, 2003, Volume: 60, Issue:10 Topics: Adolescent; Adult; Brain; Cobamides; Female; Fibroblasts; Homocysteine; Humans; Mental Disorders; Metabolism, Inborn Errors; Methylmalonic Acid; Nervous System Diseases; Sural Nerve; Vitamin B 12	2003

Other Studies

20 other study(ies) available for methylmalonic acid and cobamamide

Article	Year
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. American journal of hematology, 1990, Volume: 34, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child; Cobamides; Humans; Malonates; Methylmalonic Acid	1990
Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin. Lancet (London, England), 1986, Aug-23, Volume: 2, Issue:8504 Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Drug Resistance; Female; Humans; Hydroxocobalamin; Infant; Malonates; Methylmalonic Acid	1986
The natural history of the inherited methylmalonic acidemias. The New England journal of medicine, 1983, Apr-14, Volume: 308, Issue:15 Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Humans; Infant; Infant, Newborn; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; Prognosis; Retrospective Studies; Vitamin B 12	1983
A radio-HPLC assay for the measurement of methylmalonyl-CoA mutase. Clinica chimica acta; international journal of clinical chemistry, 1984, May-30, Volume: 139, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Child; Chromatography, High Pressure Liquid; Cobamides; Humans; Isomerases; Leukocytes; Methylmalonic Acid; Methylmalonyl-CoA Mutase	1984
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Bicarbonates; Child, Preschool; Cobamides; Female; Glycine; Humans; Malonates; Methylmalonic Acid; Vitamin B 12	1984
Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cobamides; Creatinine; Europe; Female; Follow-Up Studies; Humans; Infant; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; Prognosis; Renal Insufficiency; Retrospective Studies	1995
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant) Prenatal diagnosis, 1994, Volume: 14, Issue:5 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Cobamides; Female; Homocystinuria; Humans; Infant; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pregnancy; Prenatal Diagnosis; Vitamin B 12	1994
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. Protein science : a publication of the Protein Society, 1996, Volume: 5, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Binding Sites; Cobamides; Computer Simulation; Crystallization; Humans; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Models, Molecular; Molecular Sequence Data; Point Mutation; Propionibacterium; Protein Folding; Sequence Homology; X-Ray Diffraction	1996
Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:6 Topics: Cobamides; Fatal Outcome; Globus Pallidus; Humans; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase	1998
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. Prenatal diagnosis, 1998, Volume: 18, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chorionic Villi Sampling; Cobamides; Female; Gestational Age; Homocysteine; Homocystinuria; Humans; Male; Methylmalonic Acid; Pregnancy; Propionates; Tetrahydrofolates; Vitamin B 12	1998
Rearrangement of L-2-hydroxyglutarate to L-threo-3-methylmalate catalyzed by adenosylcobalamin-dependent glutamate mutase. Biochemistry, 2000, Aug-22, Volume: 39, Issue:33 Topics: Animals; Chick Embryo; Cobamides; Dogs; Electron Spin Resonance Spectroscopy; Flow Injection Analysis; Glutarates; Intramolecular Transferases; Isomerism; Kinetics; Methylmalonic Acid; Models, Chemical	2000
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. Neuropediatrics, 2001, Volume: 32, Issue:1 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Cobamides; Cytosol; Electroencephalography; Evoked Potentials; Female; Follow-Up Studies; Homocystinuria; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Seizures; Vitamin B 12; Vitamin B 12 Deficiency	2001
Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease. American journal of obstetrics and gynecology, 2002, Volume: 187, Issue:1 Topics: Cobamides; Female; Humans; Hydroxocobalamin; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnancy Complications; Vitamin B 12	2002
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Human mutation, 2004, Volume: 24, Issue:6 Topics: Child, Preschool; Chromosomes, Human, Pair 4; Cobamides; DNA Mutational Analysis; Exons; Female; Genetic Complementation Test; Haplotypes; Humans; Infant; Infant, Newborn; Male; Membrane Transport Proteins; Metabolism, Inborn Errors; Methylmalonic Acid; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Polymorphism, Single Nucleotide; Vitamin B 12	2004
Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatric nephrology (Berlin, Germany), 2006, Volume: 21, Issue:2 Topics: Adolescent; Cobamides; Female; Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	2006
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatric research, 2007, Volume: 62, Issue:2 Topics: Adolescent; Adult; Age of Onset; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Child; Cobamides; Disease Progression; Female; Follow-Up Studies; Gastrointestinal Diseases; Genetic Predisposition to Disease; Humans; Kaplan-Meier Estimate; Kidney Failure, Chronic; Male; Membrane Transport Proteins; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Nervous System Diseases; Prognosis; Prospective Studies; Time Factors; Vitamin B 12; Vitamin B Complex	2007
A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria. Proceedings of the National Academy of Sciences of the United States of America, 2009, Dec-22, Volume: 106, Issue:51 Topics: Base Sequence; Calorimetry; Cobamides; DNA Primers; Electron Spin Resonance Spectroscopy; GTP-Binding Proteins; Guanosine Triphosphate; Humans; Kinetics; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Models, Molecular; Mutation; Thermodynamics	2009
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. Molecular genetics and metabolism, 2010, Volume: 100, Issue:1 Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cobamides; Fluorometry; Homocystinuria; Hot Temperature; Humans; Methylmalonic Acid; Oxidoreductases; Protein Denaturation; Protein Stability; Vitamin B 12	2010
Inborn errors of cobalamin absorption and metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperhomocysteinemia; Infant, Newborn; Malabsorption Syndromes; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Neonatal Screening; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency	2011
Characterization of functional domains of the cblD (MMADHC) gene product. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:5 Topics: Amino Acid Sequence; Cells, Cultured; Cloning, Molecular; Cobamides; Coenzymes; Homocystinuria; Humans; Intracellular Signaling Peptides and Proteins; Methylmalonic Acid; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Mutation; Mutation, Missense; Vitamin B 12	2014