Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference9 articles.
1. Pompe's disease;van der Ploeg;Lancet,2008
2. The natural course of non-classic Pompe disease; a review of 225 published cases;Winkel;J. Neurol.,2005
3. Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease;Grzesiuk;Arq. Neuropsiquiatr.,2010
4. Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families;Ausems;Neuromuscul. Disord.,2000
5. Intrafamiliar variability in lysosomal storage diseases;Zlotogora;Am. J. Med. Genet.,1987
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Treatment Dilemma in Children with Late-Onset Pompe Disease;Genes;2023-01-30
2. A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening;International Journal of Neonatal Screening;2022-07-19
3. Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype;Current Genetic Medicine Reports;2018-05-03
4. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS);American Journal of Medical Genetics Part A;2017-12-06
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