{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wens SC"],"funding":["ZonMw"],"pagination":["182"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3843594"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8"],"pubmed_abstract":["<h4>Background</h4>Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations.<h4>Methods</h4>We identified all Dutch families in which two or three siblings were diagnosed with Pompe disease and described genotype, acid α-glucosidase activity, age at symptom onset, presenting symptoms, specific clinical features, mobility and ventilator dependency.<h4>Results</h4>We identified 22 families comprising two or three siblings. All "],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["Phenotypical variation within 22 families with Pompe disease."],"pmcid":["PMC3843594"],"funding_grant_id":["152001005"],"pubmed_authors":["Kruijshaar ME","Brusse E","van Doorn PA","Wens SC","Reuser AJ","van Gelder CM","de Vries JM","van der Beek NA","van der Ploeg AT"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypical variation within 22 families with Pompe disease.","description":"<h4>Background</h4>Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations.<h4>Methods</h4>We identified all Dutch families in which two or three siblings were diagnosed with Pompe disease and described genotype, acid α-glucosidase activity, age at symptom onset, presenting symptoms, specific clinical features, mobility and ventilator dependency.<h4>Results</h4>We identified 22 families comprising two or three siblings. All ","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Nov","modification":"2026-04-07T20:30:28.196Z","creation":"2026-04-07T17:37:02.211Z"},"accession":"S-EPMC3843594","cross_references":{"pubmed":["24245577"],"doi":["10.1186/1750-1172-8-182"]}}