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Pediatric Pulmonology|November 29, 2022
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvementsSimon Gapp, Sven F Garbade, Patrik Feyh, et al.
Neuropediatrics|March 1, 2002
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestationsB Assmann, R Hackler, V Peters, et al.
Plos Neglected Tropical Diseases|October 23, 2008
Use of genomic DNA as an indirect reference for identifying gender-associated transcripts in morphologically identical, but chromosomally distinct, Schistosoma mansoni cercariaeJennifer M Fitzpatrick, Anna V Protasio, Andrew J McArdle, et al.
Molecular Genetics and Metabolism|November 17, 2022
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional studyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Der Nervenarzt|September 24, 2002
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]S Bubel, V Peters, C Klein, et al.
Nature Medicine|December 14, 2011
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in miceAnette Schneider, Christian Thiel, Jan Rindermann, et al.
Frontiers in Microbiology|July 12, 2019
The Anti-mycobacterial Activity of a Diterpenoid-Like Molecule Operates Through Nitrogen and Amino Acid StarvationAlessandra Crusco, Rafael Baptista, Sumana Bhowmick, et al.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
Neurology|June 30, 2005
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyS Külkens, I Harting, S Sauer, et al.
Sleep|March 24, 2006
Sex and age differences in sleep macroarchitecture in childhood and adolescent depressionJennifer J T Robert, Robert F Hoffmann, Graham J Emslie, et al.
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