Hahn, Andreas

[["dc.bibliographiccitation.firstpage","518"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Der Nervenarzt"],["dc.bibliographiccitation.lastpage","529"],["dc.bibliographiccitation.volume","91"],["dc.contributor.author","Ziegler, Andreas"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Schara, Ulrike"],["dc.contributor.author","Hahn, Andreas"],["dc.contributor.author","Müller-Felber, Wolfgang"],["dc.contributor.author","Johannsen, Jessika"],["dc.contributor.author","von der Hagen, Maja"],["dc.contributor.author","von Moers, Arpad"],["dc.contributor.author","Stoltenburg, Corinna"],["dc.contributor.author","Saffari, Afshin"],["dc.contributor.author","Walter, Maggie C."],["dc.contributor.author","Husain, Ralf A."],["dc.contributor.author","Pechmann, Astrid"],["dc.contributor.author","Köhler, Cornelia"],["dc.contributor.author","Horber, Veronka"],["dc.contributor.author","Schwartz, Oliver"],["dc.contributor.author","Kirschner, Janbernd"],["dc.date.accessioned","2020-12-10T14:08:39Z"],["dc.date.available","2020-12-10T14:08:39Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1007/s00115-020-00919-8"],["dc.identifier.eissn","1433-0407"],["dc.identifier.issn","0028-2804"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70509"],["dc.language.iso","de"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101"],["dc.title.alternative","Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec—AVXS-101. Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)"],["dc.title.subtitle","Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.contributor.author","Holzwarth, Johanna"],["dc.contributor.author","Minopoli, Nadja"],["dc.contributor.author","Pfrimmer, Charlotte"],["dc.contributor.author","Smitka, Martin"],["dc.contributor.author","Borrel, Sabine"],["dc.contributor.author","Kirschner, Janbernd"],["dc.contributor.author","Muschol, Nicole"],["dc.contributor.author","Hartmann, Hans"],["dc.contributor.author","Hennermann, Julia B."],["dc.contributor.author","Neubauer, Bernd A."],["dc.contributor.author","Hahn, Andreas"],["dc.date.accessioned","2022-01-11T14:05:48Z"],["dc.date.available","2022-01-11T14:05:48Z"],["dc.date.issued","2021"],["dc.description.abstract","Abstract Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family history in three (9%), hyperCKemia in eight (23.5%), motor developmental delay in three (9%), and muscle weakness and/or pain in 17 (50%). Rare clinical signs were failure to thrive, recurrent diarrhea, and suspected hepatopathy with glycogen storage. Thirty-two different mutations were identified. Twenty-seven patients (79.5%) carried the milder c.32–13T > G mutation, known to be associated with a broad range of phenotypes. Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic cardiomyopathy, and had to be ventilated during the course of disease, thereby demonstrating clinical overlap with infantile onset Pompe disease. These findings demonstrate that the phenotype of JOPD is broad and that the differential is not only restricted to neuromuscular disorders. Genotypic analysis was useful to delineate subjects with early onset JOPD from those with IOPD, but overall genotype–phenotype correlation was poor."],["dc.description.abstract","Abstract Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family history in three (9%), hyperCKemia in eight (23.5%), motor developmental delay in three (9%), and muscle weakness and/or pain in 17 (50%). Rare clinical signs were failure to thrive, recurrent diarrhea, and suspected hepatopathy with glycogen storage. Thirty-two different mutations were identified. Twenty-seven patients (79.5%) carried the milder c.32–13T > G mutation, known to be associated with a broad range of phenotypes. Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic cardiomyopathy, and had to be ventilated during the course of disease, thereby demonstrating clinical overlap with infantile onset Pompe disease. These findings demonstrate that the phenotype of JOPD is broad and that the differential is not only restricted to neuromuscular disorders. Genotypic analysis was useful to delineate subjects with early onset JOPD from those with IOPD, but overall genotype–phenotype correlation was poor."],["dc.identifier.doi","10.1055/s-0041-1735250"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/97751"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-507"],["dc.relation.eissn","1439-1899"],["dc.relation.issn","0174-304X"],["dc.title","Clinical and Genetic Aspects of Juvenile Onset Pompe Disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]