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                             8 results found
no title author magazine year volume issue page(s) type
1 Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia Becker, Pierre-Hadrien
132 1 p. 38-43
 article
2 Cover 2 / Ed. Board
132 1 p. IFC
 article
3 Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism Kirby, Trevor O.
132 1 p. 1-10
 article
4 Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation Radenkovic, Silvia
132 1 p. 27-37
 article
5 Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York Fierro, Luca
132 1 p. 44-48
 article
6 Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders Longo, Nicola
132 1 p. 19-26
 article
7 Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU) Clocksin, Hayley E.
132 1 p. 11-18
 article
8 Table of Contents
132 1 p. iii
 article
                             8 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands