Arama Sonuçları - Éva Morava

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  1. 1
    Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

    Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG Yazar: Éva Morava

    Baskı/Yayın Bilgisi 2014
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  2. 2
    How to find and diagnose a CDG due to defective N‐glycosylation

    How to find and diagnose a CDG due to defective N‐glycosylation Yazar: Dirk Lefeber, Éva Morava, Jaak Jaeken

    Baskı/Yayın Bilgisi 2011
    Tam Metin Erişim
    Editorial
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  3. 3
    Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

    Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) Yazar: Peter Witters, David Cassiman, Éva Morava

    Baskı/Yayın Bilgisi 2017
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  4. 4
    Nutrition interventions in congenital disorders of glycosylation

    Nutrition interventions in congenital disorders of glycosylation Yazar: Suzanne Boyer, Christin Johnsen, Éva Morava

    Baskı/Yayın Bilgisi 2022
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  5. 5
    Congenital disorders of glycosylation: new defects and still counting

    Congenital disorders of glycosylation: new defects and still counting Yazar: Kyle Scott, Therese Gadomski, Tamás Kozicz, Éva Morava

    Baskı/Yayın Bilgisi 2014
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  6. 6
    Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

    Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review Yazar: Suzan Wopereis, Dirk J. Lefeber, Éva Morava, Ron A. Wevers

    Baskı/Yayın Bilgisi 2006
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  7. 7
    Autosomal recessive cutis laxa syndrome revisited

    Autosomal recessive cutis laxa syndrome revisited Yazar: Éva Morava, Maïlys Guillard, Dirk J. Lefeber, Ron A. Wevers

    Baskı/Yayın Bilgisi 2009
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  8. 8
    Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

    Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update Yazar: Jan Verheijen, Shawn Tahata, Tamás Kozicz, Peter Witters, Éva Morava

    Baskı/Yayın Bilgisi 2019
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  9. 9
    A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions

    A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions Yazar: Caren J. Blacker, Mark A. Frye, Éva Morava, Tamás Kozicz, Marin Veldić

    Baskı/Yayın Bilgisi 2019
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  10. 10
    Metabolic cutis laxa syndromes

    Metabolic cutis laxa syndromes Yazar: Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Éva Morava

    Baskı/Yayın Bilgisi 2011
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  11. 11
    Quo vadis: the re‐definition of “inborn metabolic diseases”

    Quo vadis: the re‐definition of “inborn metabolic diseases” Yazar: Éva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner, Marc C. Patterson, Johannes Zschocke

    Baskı/Yayın Bilgisi 2015
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  12. 12
    SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient

    SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient Yazar: Christin Johnsen, Nazi Tabatadze, Silvia Radenkovic, Grace Botzo, Bryce Kuschel, Gia Melikishvili, Éva Morava

    Baskı/Yayın Bilgisi 2024
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  13. 13
    Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls

    Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls Yazar: Bernard Bloem, Lu Xu, Éva Morava, Gábor Faludi, Miklós Palkovits, Eric W. Roubos, Tamás Kozicz

    Baskı/Yayın Bilgisi 2011
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  14. 14
    Recognizable phenotypes in CDG

    Recognizable phenotypes in CDG Yazar: Carlos R. Ferreira, Ruqaia Altassan, Dorinda Marques‐da‐Silva, Rita Francisco, Jaak Jaeken, Éva Morava

    Baskı/Yayın Bilgisi 2018
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  15. 15
    The 3‐methylglutaconic acidurias: what's new?

    The 3‐methylglutaconic acidurias: what's new? Yazar: Saskia B. Wortmann, Leo A. J. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Éva Morava

    Baskı/Yayın Bilgisi 2010
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  16. 16
    Revisiting mitochondrial diagnostic criteria in the new era of genomics

    Revisiting mitochondrial diagnostic criteria in the new era of genomics Yazar: Peter Witters, Ann Saada, Tomáš Honzík, Markéta Tesařová, Stephanie Kleinle, Rita Horváth, Amy Goldstein, Éva Morava

    Baskı/Yayın Bilgisi 2017
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  17. 17
    Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype

    Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further e... Yazar: Rodrigo Tzovenos Starosta, Jessica M. Tarnowski, Filippo Pinto e Vairo, Kimiyo Raymond, Graeme Preston, Éva Morava

    Baskı/Yayın Bilgisi 2020
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  18. 18
    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa Yazar: Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

    Baskı/Yayın Bilgisi 2009
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  19. 19
    Defective protein glycosylation in patients with cutis laxa syndrome

    Defective protein glycosylation in patients with cutis laxa syndrome Yazar: Éva Morava, Suzan Wopereis, Paul Coucke, Gabrielle Gillessen-Kaesbach, Thomas Voit, Jan Smeitink, Ron A. Wevers, Stephanie Grünewald

    Baskı/Yayın Bilgisi 2005
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  20. 20
    Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

    Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II Yazar: Maïlys Guillard, Éva Morava, Floris L. van Delft, Rosie Hague, Christian Körner, Maciej Adamowicz, Ron A. Wevers, Dirk J. Lefeber

    Baskı/Yayın Bilgisi 2011
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