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Quoted phrase not found in phrase index: "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"
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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Huemer M, et al. J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. J Inherit Metab Dis. 2015. PMID: 25762406 Free PMC article. Review.
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is lim …
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical bas …