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2021
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2020
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2015
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A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Not available
S-EPMC4487302
|
biostudies-literature
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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Not available
S-EPMC7521996
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biostudies-literature
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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Not available
S-EPMC8206404
|
biostudies-literature
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