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Quoted phrase not found in phrase index: "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"
Page 1
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early....
We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given …
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.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To …
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lea …
Methylene Tetrahydrofolate Reductase Deficiency.
Kaur R, Correa ARE, Thakur S, Kabra M, Gupta N. Kaur R, et al. Indian J Pediatr. 2020 Nov;87(11):951-953. doi: 10.1007/s12098-020-03290-3. Epub 2020 May 26. Indian J Pediatr. 2020. PMID: 32451826
5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a rare, autosomal recessive, metabolic disorder of folate metabolism, which affects homocysteine remethylation. ...The authors report five Indian patients from three unrelated families, wi …
5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a rare, autosomal recessive, metabolic disorder …
Adult-onset methylenetetrahydrofolate reductase deficiency.
Vieira D, Florindo C, Tavares de Almeida I, Macário MC. Vieira D, et al. BMJ Case Rep. 2020 Mar 10;13(3):e232241. doi: 10.1136/bcr-2019-232241. BMJ Case Rep. 2020. PMID: 32161077 Free PMC article.
Brain MRI revealed T2-hyperintense symmetric white matter lesions and cortical atrophy. He had folate and vitamin B(12) deficiency, a markedly elevated serum homocysteine and low methionine. Despite vitamin supplementation homocysteine levels remained elevated. Molecular s …
Brain MRI revealed T2-hyperintense symmetric white matter lesions and cortical atrophy. He had folate and vitamin B(12) deficiency, a …
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 patients with …
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. ... …
Homocystinuria.
Przyrembel H. Przyrembel H. Ergeb Inn Med Kinderheilkd. 1982;49:77-135. doi: 10.1007/978-3-642-68543-9_2. Ergeb Inn Med Kinderheilkd. 1982. PMID: 7049692 Review. No abstract available.
Venous thromboembolism due to hyperhomocysteinaemia and tuberculosis.
Chaudhary A, Desai U, Joshi JM. Chaudhary A, et al. Natl Med J India. 2017 May-Jun;30(3):139-141. Natl Med J India. 2017. PMID: 28936998 Free article.
Workup for malignancy was negative. However, he had vitamin B12 deficiency with increased homocysteine levels and heterozygous mutation of the MTHFR gene at A1298C. ...
Workup for malignancy was negative. However, he had vitamin B12 deficiency with increased homocysteine levels and heterozygous mutati …
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta F, Uomo F, Fecarotta S, Albano L, Crisci D, Verde A, Fisco MG, Gallo G, Dottore Stagna D, Pricolo MR, Alagia M, Terrone G, Rossi A, Parenti G, Ruoppolo M, Mazzaccara C, Frisso G. Barretta F, et al. Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980. Genes (Basel). 2023. PMID: 37239340 Free PMC article.
BACKGROUND: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop ne …
BACKGROUND: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic …
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Huemer M, et al. J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. J Inherit Metab Dis. 2015. PMID: 25762406 Free PMC article. Review.
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is lim …
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical bas …
Measurement of homocyst(e)ine in the prediction of arteriosclerosis.
Fortin LJ, Genest J Jr. Fortin LJ, et al. Clin Biochem. 1995 Apr;28(2):155-62. doi: 10.1016/0009-9120(94)00073-5. Clin Biochem. 1995. PMID: 7628074 Review.
Elevated levels of homocyst(e)ine severe enough to cause homocystinuria are seen in severe nutritional deficiencies of vitamin B12, folic acid and vitamin B6. Rare genetic disorders of vitamin B12 synthesis of 5'-10'-methylene tetrahydrofolate reduc …
Elevated levels of homocyst(e)ine severe enough to cause homocystinuria are seen in severe nutritional deficiencies of vitamin …
62 results