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Quoted phrase not found in phrase index: "Homocystinuria due to MTHFR deficiency"
Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), …
MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin BL, Varga E. Levin BL, et al. J Genet Couns. 2016 Oct;25(5):901-11. doi: 10.1007/s10897-016-9956-7. Epub 2016 Apr 30. J Genet Couns. 2016. PMID: 27130656 Review.
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency …
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria …
When to measure plasma homocysteine and how to place it in context: The homocystinurias.
Huemer M. Huemer M. J Mother Child. 2020 Oct 2;24(2):39-46. doi: 10.34763/jmotherandchild.20202402si.2016.000007. J Mother Child. 2020. PMID: 33179601 Free PMC article. Review.
Based on this premise, the severity of clinical presentations of inborn errors of metabolism, such as classical homocystinuria or the cobalamin C (cblC) defect, affecting this pathway is unsurprising....
Based on this premise, the severity of clinical presentations of inborn errors of metabolism, such as classical homocystinuria or the …
Treatment of inherited homocystinurias.
Schiff M, Blom HJ. Schiff M, et al. Neuropediatrics. 2012 Dec;43(6):295-304. doi: 10.1055/s-0032-1329883. Epub 2012 Nov 2. Neuropediatrics. 2012. PMID: 23124942 Review.
In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase [MTHFR] deficiency) are by far the most frequently encountered situations. ...In this review, after an overview of the metabo …
In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase …
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. ...To this end, we conducted a retrospective, multicentric, international cohort study on 72 patients with MTHFR deficiency …
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methioni …
The Effects of Homocysteine on the Skeleton.
Saito M, Marumo K. Saito M, et al. Curr Osteoporos Rep. 2018 Oct;16(5):554-560. doi: 10.1007/s11914-018-0469-1. Curr Osteoporos Rep. 2018. PMID: 30116976 Review.
Encountering a case with excessive homocysteinemia such as that seen in hereditary homocystinuria is unlikely during usual medical examinations. However, in individuals who have vitamin B or folate deficiency, serum homocysteine concentrations are known to increase. ...The …
Encountering a case with excessive homocysteinemia such as that seen in hereditary homocystinuria is unlikely during usual medical ex …
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
The prescribed betaine dose exceeded the recommended maximum (6 g/day) in 49% of individuals older than 10 years because of continued dose adaptation to weight; however, with disease-specific differences (minimum: 31% in B(6) nonresponsive CBS deficiency, maximum: 67% in MTHFR …
The prescribed betaine dose exceeded the recommended maximum (6 g/day) in 49% of individuals older than 10 years because of continued dose a …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficien …
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neu …
SIRT1 pharmacological activation rescues vascular dysfunction and prevents thrombosis in MTHFR deficiency.
Carrizzo A, Iside C, Nebbioso A, Carafa V, Damato A, Sciarretta S, Frati G, Di Nonno F, Valenti V, Ciccarelli M, Venturini E, Scioli M, Di Pietro P, Bucci T, Giudice V, Storto M, Serio B, Puca AA, Giugliano G, Trimarco V, Izzo R, Trimarco B, Selleri C, Altucci L, Vecchione C. Carrizzo A, et al. Cell Mol Life Sci. 2022 Jul 11;79(8):410. doi: 10.1007/s00018-022-04429-5. Cell Mol Life Sci. 2022. PMID: 35821533 Free PMC article.
Here, we hypothesize that targeting Sirtuin 1 (SIRT1) could be an alternative mechanism to control the cardiovascular risk associated to MTHFR deficiency condition. Flow Mediated Dilatation (FMD) and light transmission aggregometry assay were performed in subjects c …
Here, we hypothesize that targeting Sirtuin 1 (SIRT1) could be an alternative mechanism to control the cardiovascular risk associated to …
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 …
56 results