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BBA Clinical|December 18, 2015
Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type IMcH Janssen, Laj Kluijtmans, S B WortmannEuropean Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 8, 2007
Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literatureS B Wortmann, A Reimer, J W T Creemers, et al.Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisitedS B Wortmann, R Rodenburg, B Schwahn, et al.Journal of Inherited Metabolic Disease|December 3, 2011
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The PiccolominiM Binkhorst, S B Wortmann, S Funke, et al.Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiencyE Morava, S B Wortmann, H Zweers van Essen, et al.Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft|July 8, 2020
[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?]V Kakkassery, A Koschmieder, F Walther, et al.Journal of Inherited Metabolic Disease|November 1, 2013
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)J de Ruijter, L Broere, M F Mulder, et al.Nature Communications|March 10, 2015
MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destructionK J Ahlqvist, S Leoncini, A Pecorelli, et al.Pageof 2