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2015 | 1 |
2019 | 1 |
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Endothelial adenosine kinase deficiency ameliorates diet-induced insulin resistance.
J Endocrinol. 2019 Aug;242(2):159-172. doi: 10.1530/JOE-19-0126.
J Endocrinol. 2019.
PMID: 31189131
Free PMC article.
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. ...Individuals homozygous or compound heterozygous for MAT1A mutations m …
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical …
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