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Cited by 454

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects

Open access
Blom, Henk J., Smulders, Yvo·2011·Journal of Inherited Metabolic Disease

Abstract

This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and palate, late pregnancy complications, different kinds of neurodegenerative and psychiatric diseases, osteoporosis and cancer. In addition, the inborn errors leading to hyperhomocysteinemia and homocystinuria are described. These extreme human hyperhomocysteinemia models provide knowledge about which part of the homocysteine and folate pathways are linked to which disease. For example, the very high risk for arterial and venous occlusive disease in patients with severe hyperhomocysteinemia irrespective of the location of the defect in remethylation or transsulphuration indicates that homocysteine itself or one of its “direct” derivatives is considered toxic for the cardiovascular system. Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects.

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Metadata

Authors
Blom, H. J., & Smulders, Y.
Venue
Journal of Inherited Metabolic Disease
Publisher
Wiley
Published
2010-09-04
Volume
34
Issue
1
Pages
75-81
ISSN
  • 0141-8955 (ISSN-L)
  • 1573-2665
OpenAlex
W1978998408
Cited by
454
References
2
FWCI
11.84
Type
journal article
Language
en
Open access
hybrid

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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