Mol Genet Metab 2017 Nov 19;122(3):99-107. Epub 2017 Sep 19.
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:
Download full-text PDF
Gene 2014 Mar 30;537(1):41-5. Epub 2013 Dec 30.
Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5. Electronic address:
Pompe disease is a clinically and genetically heterogeneous autosomal recessive disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. We report on two affected members of a non-consanguineous Caucasian family, including a classical infantile-onset patient with severe cardiomyopathy (IO) and his paternal grandmother with the adult-onset (AO) form. Two compound heterozygous sequence variants of the GAA gene were identified in each patient by mutation analyses (IO=c. Read More
Am J Med Genet A 2014 Jan 15;164A(1):54-61. Epub 2013 Nov 15.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
The aim of this study was to: (a) analyze the results of a large-scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile-onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In this study, 402,281 newborns were screened for Pompe disease from January 1, 2008 to May 1, 2012. Infants with low acid α-glucosidase (GAA) activity were referred to Taipei Veterans General Hospital for diagnostic confirmation. Read More
J Neurol 2015 12;262(4):968-78. Epub 2015 Feb 12.
Department of Neurosciences, University of Messina, Messina, Italy,
Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the last 15 years and to point out unusual phenotypic/genotypic features as well as enzyme replacement therapy (ERT) responses. We diagnosed 30 LOPD patients; at follow-up, they underwent motor, respiratory, cardiac and muscle MRI evaluations. Read More
J Neurol 2018 Jan 27;265(1):159-164. Epub 2017 Nov 27.
Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. Read More