Sökresultat - Morava, Eva

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext