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Quoted phrase not found in phrase index: "Homocystinuria due to MTHFR deficiency"
Page 1
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Weile J, et al. Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. Am J Hum Genet. 2021. PMID: 34214447 Free PMC article.
The resulting atlas of MTHFR variant effects reveals many complex dependencies on both folinate and p.Ala222Val. MTHFR atlas scores can distinguish pathogenic from benign variants and, among individuals with severe MTHFR deficiency, correlate with age of dise …
The resulting atlas of MTHFR variant effects reveals many complex dependencies on both folinate and p.Ala222Val. MTHFR atlas scores c …
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. ...Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of …
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methioni …
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R. Savojardo C, et al. Int J Mol Sci. 2021 Dec 23;23(1):167. doi: 10.3390/ijms23010167. Int J Mol Sci. 2021. PMID: 35008593 Free PMC article.
MTHFR deficiency still deserves an investigation to associate the phenotype to protein structure variations. ...We show that patterns of disease-associated, physicochemical variation types, both in the catalytic and regulatory domains, are unique for the MTHFR …
MTHFR deficiency still deserves an investigation to associate the phenotype to protein structure variations. ...We show that p …
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
Moirangthem A, Saxena D, Masih S, Shambhavi A, Nilay M, Phadke SR. Moirangthem A, et al. Clin Dysmorphol. 2022 Apr 1;31(2):59-65. doi: 10.1097/MCD.0000000000000407. Clin Dysmorphol. 2022. PMID: 34845156
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria ca …
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including …
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium. Marelli C, et al. J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 2. J Inherit Metab Dis. 2021. PMID: 33089527
5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR deficien …
5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to …
Hyperhomocysteinaemia and associated disease.
Bakker RC, Brandjes DP. Bakker RC, et al. Pharm World Sci. 1997 Jun;19(3):126-32. doi: 10.1023/a:1008634632501. Pharm World Sci. 1997. PMID: 9259028 Review.
Mildly elevated genetically determined plasma homocysteine levels are observed in 5% of the general population. In the last two decades research has shown mild hyperhomocysteinaemia to be linked to an increased risk of premature atherosclerosis, pregnancies complicated by …
Mildly elevated genetically determined plasma homocysteine levels are observed in 5% of the general population. In the last two decad …
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for w …
RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency …
Associations between Folate Metabolism Enzyme Polymorphisms and Lung Cancer: A Meta-Analysis.
Chen F, Wen T, Lv Q, Liu F. Chen F, et al. Nutr Cancer. 2020;72(7):1211-1218. doi: 10.1080/01635581.2019.1677924. Epub 2019 Oct 29. Nutr Cancer. 2020. PMID: 31661627
Subgroup analyses revealed similar significant findings for MTHFR rs1801133 polymorphism in East Asians. Significant associations with LC were also observed for MTRR rs1801394 and MTHFR rs1801133 polymorphisms in smokers. ...
Subgroup analyses revealed similar significant findings for MTHFR rs1801133 polymorphism in East Asians. Significant associations with LC we …
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydrox …
In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism ( …
Oxidative stress and platelet activation in subjects with moderate hyperhomocysteinaemia due to MTHFR 677 C→T polymorphism.
Dragani A, Falco A, Santilli F, Basili S, Rolandi G, Cerasa L, Lattanzio S, Ciabattoni G, Patrono C, Davì G. Dragani A, et al. Thromb Haemost. 2012 Sep;108(3):533-42. doi: 10.1160/TH11-12-0899. Epub 2012 Jul 10. Thromb Haemost. 2012. PMID: 22782530
A methionine-loading test and folic acid supplementation were performed to investigate the causal relationship of the observed associations. Urinary 8-iso-PGF(2alpha) and 11-dehydro-TXB(2) were higher in carriers with hyperhomocysteinaemia than in those without hyperhomocy …
A methionine-loading test and folic acid supplementation were performed to investigate the causal relationship of the observed associ …
24 results