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Search Results - Vermunt-de Koning, Diana
Search Results - Vermunt-de Koning, Diana
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A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9
by
Smith, Amanda C.
,
Ito, Yoko
,
Ahmed, Afsana
,
Schwartzentruber, Jeremy A.
,
Beaulieu, Chandree L.
,
Aberg, Erika
,
Majewski, Jacek
,
Bulman, Dennis E.
,
Horsting-Wethly, Karina
,
Koning, Diana Vermunt-de
,
Rodenburg, Richard J.
,
Boycott, Kym M.
,
Penney, Lynette S.
Published in
Journal of inherited metabolic disease
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Monitoring of inosine monophosphate dehydrogenase activity in mononuclear cells of children with acute lymphoblastic leukemia: Enzymological and clinical aspects
by
Brouwer, Connie
,
Vermunt-de Koning, Diana G.M.
,
Trueworthy, Robert C.
,
ter Riet, Patricia G.J.H.
,
Duley, John A.
,
Trijbels, Frans J.M.
,
Hoogerbrugge, Peter M.
,
Bökkerink, Jos P.M.
,
van Wering, Elisabeth R.
,
De Abreu, Ronney A.
Published in
Pediatric Blood & Cancer
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A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9
by
Smith, Amanda C
,
Ito, Yoko
,
Ahmed, Afsana
,
Schwartzentruber, Jeremy A
,
Beaulieu, Chandree L
,
Aberg, Erika
,
Majewski, Jacek
,
Bulman, Dennis E
,
Horsting-Wethly, Karina
,
Koning, Diana Vermunt-de
,
Rodenburg, Richard J
,
Boycott, Kym M
,
Penney, Lynette S
Published in
Journal of inherited metabolic disease
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
by
Carrozzo, Rosalba
,
Dionisi-Vici, Carlo
,
Steuerwald, Ulrike
,
Lucioli, Simona
,
Deodato, Federica
,
Di Giandomenico, Sivia
,
Bertini, Enrico
,
Franke, Barbara
,
Kluijtmans, Leo A. J.
,
Meschini, Maria Chiara
,
Rizzo, Cristiano
,
Piemonte, Fiorella
,
Rodenburg, Richard
,
Santer, René
,
Santorelli, Filippo M.
,
van Rooij, Arno
,
Vermunt-de Koning, Diana
,
Morava, Eva
,
Wevers, Ron A.
Published in
Brain (London, England : 1878)
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Commentary
by
CHINNERY, Patrick F
,
CARROZZO, Rosalba
,
MESCHINI, Maria Chiara
,
RIZZO, Cristiano
,
PIEMONTE, Fiorella
,
RODENBURG, Richard
,
SANTER, René
,
SANTORELLI, Filippo M
,
VAN ROOIJ, Arno
,
VERMUNT-DE KONING, Diana
,
MORAVA, Eva
,
WEVERS, Ron A
,
DIONISI-VICI, Carlo
,
STEUERWALD, Ulrike
,
LUCIOLI, Simona
,
DEODATO, Federica
,
DI GIANDOMENICO, Sivia
,
BERTINI, Enrico
,
FRANKE, Barbara
,
KLUIJTMANS, Leo A. J
Published in
Brain (London, England : 1878)
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