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Limitations of galactose therapy in phosphoglucomutase 1 deficiency
Download from doi.orgCongenital disorders of glycosylation (CDG): Quo vadis?
Download from doi.orgNit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione
Download from www.pnas.orgISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Download from www.nature.comA conserved phosphatase destroys toxic glycolytic side products in mammals and yeast
UploadTwo new cases of serine deficiency disorders treated with L- Serine
Download from www.researchgate.netA Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair
Download from dx.doi.orgEnzyme complexity in intermediary metabolism
UploadCHAPTER 6. The Biochemistry of Enzymes Producing Carnosine and Anserine
UploadMultiple Phenotypes in Phosphoglucomutase 1 Deficiency
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