Co-Occurring Methylenetetrahydrofolate Reductase (<i>MTHFR</i>) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome

Aim: Remethylation disorders such as 5,10-methylenetetrahydrofolate reductase (<i>MTHFR</i>) deficiency reduce the remethylation of homocysteine to methionine. The resulting hyperhomocysteinemia can lead to serious neurological consequences and multisystem toxicity. The role of <i>MTHFR</i> genotype...

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Principais autores:	Jatinder Singh, Georgina Wilkins, Ella Goodman-Vincent, Samiya Chishti, Ruben Bonilla Guerrero, Leighton McFadden, Zvi Zahavi, Paramala Santosh
格式:	Artigo
語言:	Inglês
出版:	MDPI AG 2024-06-01
叢編:	Brain Sciences
主題:	Rett Syndrome remethylation MTHFR clinical severity pharmacogenomics
在線閱讀:	https://www.mdpi.com/2076-3425/14/7/624
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