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Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy
Download from doi.orgBi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
UploadAspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
UploadIdentification of human D lactate dehydrogenase deficiency
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