Homocysteinemia
What's New
Last Posted: Apr 20, 2024
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Yupeng Liu, et al. Orphanet journal of rare diseases 2024 0 (1) 159 - [Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Chongfen Chen, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 0 (9) 1086-1092 - Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li Dong-Xiao, et al. World journal of pediatrics : WJP 2018 0 (2) 197-203 - Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
Zhou Wei, et al. Frontiers in genetics 2019 0 726 - Homocysteinemia is Associated with the Presence of Microbleeds in Cognitively Impaired Patients.
Yoo Jun Sang, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020 0 (12) 105302 - Life-threatening course in coronavirus disease 2019 (COVID-19): Is there a link to methylenetetrahydrofolic acid reductase (MTHFR) polymorphism and hyperhomocysteinemia?
Karst Matthias, et al. Medical hypotheses 2020 0 110234 - Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang Chao, et al. Molecular genetics & genomic medicine 2020 0 (6) e1221 - Methylenetetrahydrofolate reductase polymorphisms as genetic markers to predict homocysteinemia and clinical severity in sickle cell disease.
Patel Suprava, et al. Biomarkers in medicine 2021 0 (5) 337-345 - Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Yi, et al. Journal of human genetics 2019 0 (4) 305-312 - [Hyperhomocysteinemia as a vascular risk factor in chronic hemodialysis patients].
Trimarchi Hernán, et al. Medicina 2006 0 (6) 513-7
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Graves Disease
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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