Hakutulokset - Morava, Eva

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG Tekijä Morava, Eva

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CDG – an update Tekijä Morava, Eva, Lefeber, Dirk

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Disease severity and clinical outcome in phosphosglucomutase deficiency Tekijä Morava, Eva, Wong, Sunnie, Lefeber, Dirk

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Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) Tekijä Witters, Peter, Cassiman, David, Morava, Eva

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How to find and diagnose a CDG due to defective N-glycosylation Tekijä Lefeber, Dirk J., Morava, Eva, Jaeken, Jaak

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Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Tekijä Berry, Gerard T., Freeze, Hudson H., Morava, Eva

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Congenital disorders of glycosylation: new defects and still counting Tekijä Scott, Kyle, Gadomski, Therese, Kozicz, Tamas, Morava, Eva

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Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review Tekijä Althonaian, Nouf, Alsultan, Abdulrahman, Morava, Eva, Alfadhel, Majid

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

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Reply to Leao-Teles et al Tekijä Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

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

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Aerobic exercise in children with oxidative phosphorylation defects Tekijä Schreuder, Luuk, Peters, Gera, Nijhuis-van der Sanden, Ria, Morava, Eva

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Lymphatic Edema in Congenital Disorders of Glycosylation Tekijä Verstegen, Ruud HJ, Theodore, Miranda, van de Klerk, Hans, Morava, Eva

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Heritable Disorders in the Metabolism of the Dolichols: A Bridge From Sterol Biosynthesis to Molecular Glycosylation Tekijä WOLFE, LYNNE A., MORAVA, EVA, HE, MIAO, VOCKLEY, JERRY, GIBSON, K. MICHAEL

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Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) Tekijä Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation Tekijä Witters, Peter, Breckpot, Jeroen, Foulquier, François, Preston, Graem, Jaeken, Jaak, Morava, Eva

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A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions Tekijä Blacker, Caren J., Frye, Mark A., Morava, Eva, Kozicz, Tamas, Veldic, Marin

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Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts Tekijä Budhraja, Rohit, Joshi, Neha, Radenkovic, Silvia, Kozicz, Tamas, Morava, Eva, Pandey, Akhilesh

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Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature Tekijä Qian, Zhen, Van den Eynde, Jef, Heymans, Stephane, Mertens, Luc, Morava, Eva

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Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency Tekijä Muthusamy, Karthik, Boyer, Suzanne, Patterson, Marc, Bierau, Jorgen, Wortmann, Saskia, Morava, Eva

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