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                             8 results found
no title author magazine year volume issue page(s) type
1 Best practices for the use of intracerebroventricular drug delivery devices Slavc, Irene
124 3 p. 184-188
 article
2 CCDC115-CDG: A new rare and misleading inherited cause of liver disease Girard, Muriel
124 3 p. 228-235
 article
3 Cover 2 / Ed. Board
124 3 p. IFC
 article
4 Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability Ferreira, C.R.
124 3 p. 204-209
 article
5 Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature Pérez-López, J.
124 3 p. 216-227
 article
6 European expert consensus statement on therapeutic goals in Fabry disease Wanner, Christoph
124 3 p. 189-203
 article
7 Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability Menduti, Giovanna
124 3 p. 210-215
 article
8 Universal newborn screening: A roadmap for action Howson, C.P.
124 3 p. 177-183
 article
                             8 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands