Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1982 1
1989 1
1995 1
1996 1
1997 2
1998 1
1999 3
2000 2
2001 2
2003 2
2005 2
2007 2
2010 2
2011 2
2014 1
2015 3
2016 2
2017 2
2018 4
2019 5
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Results by year

Filters applied: . Clear all
Page 1
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER. Zaric BL, et al. Curr Med Chem. 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. Curr Med Chem. 2019. PMID: 29532755 Review.
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutations and enzyme deficiencies in 5, 10-methylenetetrahydrofolate reductase (MTHFR) methionine synthase (MS), and cystathionine be …
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutations and …
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 …
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.
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. ...Rare mutations in the MTHFR gene have been associated with autoso …
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of …
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. …
Encountering a case with excessive homocysteinemia such as that seen in hereditary homocystinuria is unlikely during usual medical ex …
Hyperhomocysteinaemia.
Perry DJ. Perry DJ. Baillieres Best Pract Res Clin Haematol. 1999 Sep;12(3):451-77. doi: 10.1053/beha.1999.0036. Baillieres Best Pract Res Clin Haematol. 1999. PMID: 10856981 Review.
Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabol …
Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria is …
Homocystinuria: pathogenetic mechanisms.
Grieco AJ. Grieco AJ. Am J Med Sci. 1977 Mar-Apr;273(2):120-32. Am J Med Sci. 1977. PMID: 324277 Review.
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. ...Sulfation factor-like effects contribute to disruption of va
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine sy
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.
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 …
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 …
Homocysteine and B vitamins.
Cook S, Hess OM. Cook S, et al. Handb Exp Pharmacol. 2005;(170):325-38. doi: 10.1007/3-540-27661-0_11. Handb Exp Pharmacol. 2005. PMID: 16596805 Review.
Increased serum concentrations (=hyperhomocysteinemia, >10 micromol/l) have been associated with an increased cardiovascular risk. Homocystinuria, an infrequent genetic disease usually due to lack of cystathione beta-synthase, has been found with severely elevated serum …
Increased serum concentrations (=hyperhomocysteinemia, >10 micromol/l) have been associated with an increased cardiovascular risk. Hom
38 results