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Search Results - Fernandez-Ojeda, Matilde
Search Results - Fernandez-Ojeda, Matilde
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Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology
by
Zabinyakov, Nikita
,
Bullivant, Garrett
,
Cao, Feng
,
Fernandez Ojeda, Matilde
,
Jia, Zheng Ping
,
Wen, Xiao-Yan
,
Dowling, James J
,
Salomons, Gajja S
,
Mercimek-Andrews, Saadet
Published in
PloS one
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Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data
by
Marten, Lara M.
,
Krätzner, Ralph
,
Salomons, Gajja S.
,
Fernandez Ojeda, Matilde
,
Dechent, Peter
,
Gärtner, Jutta
,
Huppke, Peter
,
Dreha-Kulaczewski, Steffi
Published in
Molecular genetics and metabolism reports
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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
by
Pop, Ana
,
Williams, Monique
,
Struys, Eduard A.
,
Monné, Magnus
,
Jansen, Erwin E. W.
,
De Grassi, Anna
,
Kanhai, Warsha A.
,
Scarcia, Pasquale
,
Ojeda, Matilde R. Fernandez
,
Porcelli, Vito
,
van Dooren, Silvy J. M.
,
Lennertz, Pascal
,
Nota, Benjamin
,
Abdenur, Jose E.
,
Coman, David
,
Das, Anibh Martin
,
El-Gharbawy, Areeg
,
Nuoffer, Jean-Marc
,
Polic, Branka
,
Santer, René
,
Weinhold, Natalie
,
Zuccarelli, Britton
,
Palmieri, Ferdinando
,
Palmieri, Luigi
,
Salomons, Gajja S.
Published in
Journal of inherited metabolic disease
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Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
by
Pop, Ana
,
Smith, Desirée E.C.
,
Kirby, Trevor
,
Walters, Dana
,
Gibson, K. Michael
,
Mahmoudi, Soufiane
,
van Dooren, Silvy J.M.
,
Kanhai, Warsha A.
,
Fernandez-Ojeda, Matilde R.
,
Wever, Eric J.M.
,
Koster, Janet
,
Waterham, Hans R.
,
Grob, Bram
,
Roos, Birthe
,
Wamelink, Mirjam M.C.
,
Chen, Justin
,
Natesan, Senthil
,
Salomons, Gajja S.
Published in
Molecular genetics and metabolism
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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
by
Betsalel, Ofir T.
,
Pop, Ana
,
Rosenberg, Efraim H.
,
Fernandez-Ojeda, Matilde
,
Jakobs, Cornelis
,
Salomons, Gajja S.
Published in
Molecular genetics and metabolism
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Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
by
Hewson, Stacy
,
Brunga, Ledia
,
Ojeda, Matilde Fernandez
,
Imhof, Elizabeth
,
Patel, Jaina
,
Zak, Maria
,
Donner, Elizabeth J.
,
Kobayashi, Jeff
,
Salomons, Gajja S.
,
Mercimek-Andrews, Saadet
Published in
Canadian journal of neurological sciences
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
by
Nota, Benjamin
,
Struys, Eduard A.
,
Pop, Ana
,
Jansen, Erwin E.
,
Fernandez Ojeda, Matilde R.
,
Kanhai, Warsha A.
,
Kranendijk, Martijn
,
van Dooren, Silvy J.M.
,
Bevova, Marianna R.
,
Sistermans, Erik A.
,
Nieuwint, Aggie W.M.
,
Barth, Magalie
,
Ben-Omran, Tawfeg
,
Hoffmann, Georg F.
,
de Lonlay, Pascale
,
McDonald, Marie T.
,
Meberg, Alf
,
Muntau, Ania C.
,
Nuoffer, Jean-Marc
,
Parini, Rossella
,
Read, Marie-Hélène
,
Renneberg, Axel
,
Santer, René
,
Strahleck, Thomas
,
van Schaftingen, Emile
,
van der Knaap, Marjo S.
,
Jakobs, Cornelis
,
Salomons, Gajja S.
Published in
American journal of human genetics
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Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population
by
Saarenheimo, Jatta
,
Wahid, Nesna
,
Eigeliene, Natalja
,
Ravi, Ravichandra
,
Salomons, Gajja S.
,
Ojeda, Matilde Fernandez
,
Vijzelaar, Raymon
,
Jekunen, Antti
,
van Kuilenburg, André B. P.
Published in
Cancer chemotherapy and pharmacology
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