The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY. To date, only 15 patients with this disorder have been reported, including several patients treated with dietary management. In this study, we...

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Detalles Bibliográficos
Autores principales: Huang, Yue, Chang, Richard, Abdenur, Jose E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249945/
https://www.ncbi.nlm.nih.gov/pubmed/35789945
http://dx.doi.org/10.1016/j.ymgmr.2022.100885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249945/
https://www.ncbi.nlm.nih.gov/pubmed/35789945
http://dx.doi.org/10.1016/j.ymgmr.2022.100885

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