Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?-Reference-Cited by-同舟云学术

Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?

Published:2019 Issue: Volume:7 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Hoss Giovana Regina Weber¹^ORCID,Poloni Soraia¹,Blom Henk J²,Schwartz Ida Vanessa Doederlein³

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

2. University Medical Centre Amsterdam, Netherlands

3. Universidade Federal do Rio Grande do Sul, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

http://www.scielo.br/pdf/jiems/v7/2326-4594-jiems-7-e20190007.pdf

Reference100 articles.

1. Genetic determinants of plasma total homocysteine;Gellekink H;Semin Vasc Med,2005

2. Preventive health care, 2000 update: screening and management of hyperhomocysteinemia for the prevention of coronary artery disease events. The Canadian Task Force on Preventive Health Care;Booth GL;CMAJ.,2000

3. Mechanisms of homocysteine toxicity in humans;Perła-Kaján J;Amino Acids,2007

4. Homocysteine and disease: causal associations or epiphenomenons?;Hannibal L;Mol Aspects Med,2017

5. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects;Blom HJ;J Inherit Metab Dis,2011

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