DSpace

DSpace at RU >

Search Results

 
for  

Results 71-80 of 110.

Sort items by In order  |  Results/Page Authors/record

Item hits:

Full TextIssue DateTitleAuthor(s)
2007Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.Adamowicz, M.; Ploski, R.; Rokicki, D.; Morava, E.; Gizewska, M.; Mierzewska, H.; Pollak, A.; Lefeber, D.J.; Wevers, R.A.; Pronicka, E.
2007Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.Vermeer, S.; Kremer, H.P.H.; Leijten, Q.H.; Scheffer, H.; Matthijs, G.; Wevers, R.A.; Knoers, N.V.A.M.; Morava, E.; Lefeber, D.J.
2007[Metabolic bone disease in premature infants and genetic polymorphisms]Funke, S.; Morava, E.; Czako, M.; Vida, G.; Ertl, T.; Kosztolanyi, G.Y.
2007Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).Heil, S.G.; Hogeveen, M.; Kluijtmans, L.A.J.; Dijken, P.J. van; Berg, G.B. van de; Blom, H.J.; Morava, E.
2007Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.Wopereis, S.; Grunewald, S.; Huijben, K.M.; Morava, E.; Mollicone, R.; Engelen, B.G.M. van; Lefeber, D.J.; Wevers, R.A.
2007SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.Carrozzo, R.; Dionisi-Vici, C.; Steuerwald, U.; Lucioli, S.; Deodato, F.; Giandomenico, S. Di; Bertini, E.; Franke, B.; Kluijtmans, L.A.J.; Meschini, M.C.; Rizzo, C.; Piemonte, F.; Rodenburg, R.J.T.; Santer, R.; Santorelli, F.M.; Rooij, A. van; Vermunt-de Koning, D.G.M.; Morava, E.; Wevers, R.A.
2006Dietary intervention and oxidative phosphorylation capacity.Morava, E.; Rodenburg, R.J.T.; Essen, H.Z. van; Vries, M.C. de; Smeitink, J.A.M.
2006Presenile cataract: consider cholestanol.Teszas, A.; Pfund, Z.; Morava, E.; Kosztolanyi, G.Y.; Sistermans, E.A.; Wevers, R.A.; Kellermayer, R.
2006Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.Morava, E.; Hamel, B.C.J.; Hol, F.A.; Rodenburg, R.J.T.; Smeitink, J.A.M.
2006CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.Albahri, Z.; Marklova, E.; Dedek, P.; Hojdikova, H.; Fiedler, Z.; Lefeber, D.J.; Wevers, R.A.; Morava, E.; Wopereis, S.

previous 1 2 3 4 5 6 7 8 9 10 11 next

 

  DSpace Software Copyright © 2002-2011  Duraspace - Feedback