Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands
Morava E, Wosik H, Karteszi J, Guillard M, Adamowicz M, Sykut Cegielska J, et al
. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis. 2008;31:450-6 pubmed publisher
..Clinical grouping also helps to determine the prognosis and provide better counselling for the families. ..
Morava E, Wosik H, Sykut Cegielska J, Adamowicz M, Guillard M, Wevers R, et al
. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009;93:350-4 pubmed publisher
..We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling. ..
Morava E, Steuerwald U, Carrozzo R, Kluijtmans L, Joensen F, Santer R, et al
. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion. 2009;9:438-42 pubmed publisher
..Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients. ..
Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, et al
. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Eur J Pediatr. 2004;163:467-71 pubmed
..we recommend a muscle biopsy and the biochemical analysis of the oxidative phosphorylation system in patients with muscle hypotonia, cardiomyopathy and congenital or infantile cataract. ..
Morava E, Cser B, Karteszi J, Huijben K, Szonyi L, Kosztolanyi G, et al
. Screening for CDG type Ia in Joubert syndrome. Med Sci Monit. 2004;10:CR469-72 pubmed
..The symptoms of the two syndromes were clearly distinguishable. Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation. ..
Morava E, Kühnisch J, Drijvers J, Robben J, Cremers C, van Setten P, et al
. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab. 2011;96:E189-98 pubmed publisher
..Furthermore, this human disorder provides the first direct evidence for a role of ANK in the central nervous system. ..
Morava E, Vodopiutz J, Lefeber D, Janecke A, Schmidt W, Lechner S, et al
. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012;130:e1034-9 pubmed publisher
..We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events. ..
Morava E, Rodenburg R, Hol F, De Vries M, Janssen A, Van Den Heuvel L, et al
. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A. 2006;140:863-8 pubmed
..We confirmed an impaired assembly/stability of complex V in our patients. This is the first report of decreased activity and impaired assembly/stability of complex V in patients with T8993C mutations measured in muscle tissue. ..
Morava E, Willemsen M, Wopereis S, ter Laak H, Lefeber D, Wevers R, et al
. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. Eur J Ophthalmol. 2006;16:190-4 pubmed
..Alpha-dystroglycan is an O-mannosylated glycoprotein with additional mucin type O-glycans...