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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd. Kripps KA, et al. J Inherit Metab Dis. 2022 Mar;45(2):157-168. doi: 10.1002/jimd.12448. Epub 2021 Oct 21. J Inherit Metab Dis. 2022. PMID: 34625984
It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presentation of cblG is variable, ranging from seizures, encephalopathy, macrocytic anemia, hypotonia, and feeding difficulties in the neonatal period to onset of psychiatric sy …
It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presentation of cblG is variable, ran …
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Goyette P, Christensen B, Rosenblatt DS, Rozen R. Goyette P, et al. Am J Hum Genet. 1996 Dec;59(6):1268-75. Am J Hum Genet. 1996. PMID: 8940272 Free PMC article.
Patients with severe MTHFR deficiency have hyperhomocysteinemia, hypomethioninemia, and a range of neurological and vascular findings with a variable age at onset. ...
Patients with severe MTHFR deficiency have hyperhomocysteinemia, hypomethioninemia, and a range of neurological and vascular findings …
Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family.
Tonetti C, Burtscher A, Bories D, Tulliez M, Zittoun J. Tonetti C, et al. Am J Med Genet. 2000 Apr 24;91(5):363-7. doi: 10.1002/(sici)1096-8628(20000424)91:5<363::aid-ajmg9>3.0.co;2-x. Am J Med Genet. 2000. PMID: 10767000
The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found associated with low folate levels in serum and red cells, especially undetectable methyl …
The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomo …
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP. Manoli I, et al. Genet Med. 2016 Apr;18(4):396-404. doi: 10.1038/gim.2015.107. Epub 2015 Aug 13. Genet Med. 2016. PMID: 26270766 Free PMC article.
PURPOSE: Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia. However, some patients with cblC deficiency are treated with me …
PURPOSE: Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalon …
Targeted disruption of the methionine synthase gene in mice.
Swanson DA, Liu ML, Baker PJ, Garrett L, Stitzel M, Wu J, Harris M, Banerjee R, Shane B, Brody LC. Swanson DA, et al. Mol Cell Biol. 2001 Feb;21(4):1058-65. doi: 10.1128/MCB.21.4.1058-1065.2001. Mol Cell Biol. 2001. PMID: 11158293 Free PMC article.
Human patients with methionine synthase deficiency exhibit homocysteinemia, homocysteinuria, and hypomethioninemia. They suffer from megaloblastic anemia with or without some degree of neural dysfunction and mental retardation. ...
Human patients with methionine synthase deficiency exhibit homocysteinemia, homocysteinuria, and hypomethioninemia. They suffer from …
Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.
Philipponnet C, Desenclos J, Brailova M, Aniort J, Kemeny JL, Deville C, Fremeaux-Bacchi V, Souweine B, Heng AE. Philipponnet C, et al. BMC Nephrol. 2020 Mar 12;21(1):96. doi: 10.1186/s12882-020-01748-2. BMC Nephrol. 2020. PMID: 32164588 Free PMC article.
Exhaustive analyses showed 1) circulating anti factor H antibody and 2) hyperhomocysteinemia, hypomethioninemia and high levels of methylmalonic aciduria pointing towards Clb C disease. ...
Exhaustive analyses showed 1) circulating anti factor H antibody and 2) hyperhomocysteinemia, hypomethioninemia and high levels of me …
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S. Fattal-Valevski A, et al. J Child Neurol. 2000 Aug;15(8):539-43. doi: 10.1177/088307380001500808. J Child Neurol. 2000. PMID: 10961793
Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinuria is combined with hypomethioninemia. The main clinical findings are neurologic signs such as severe developmental delay, marked hy …
Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinu …
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Leclerc D, et al. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3059-64. doi: 10.1073/pnas.95.6.3059. Proc Natl Acad Sci U S A. 1998. PMID: 9501215 Free PMC article.
Patients of the cblE complementation group of disorders of folate/cobalamin metabolism who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hyperhomocysteinemia, and hypomethioninemia. Using consensus sequences …
Patients of the cblE complementation group of disorders of folate/cobalamin metabolism who are defective in reductive activation of methioni …
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Schwahn BC, Karp N, Rosenblatt DS, Watkins D, Shaag A, Korman SH, Heyman SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O, Kohn Y. Lossos A, et al. JAMA Neurol. 2014 Jul 1;71(7):901-4. doi: 10.1001/jamaneurol.2014.116. JAMA Neurol. 2014. PMID: 24797679
Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutation i …
Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% …