Establishing Pompe Disease Newborn Screening: The Role of Industry
International Journal of Neonatal Screening, 2020 When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter ...
Joan M. Keutzer
exaly +4 more sources
Lessons Learned from Pompe Disease Newborn Screening and Follow-up
International Journal of Neonatal Screening, 2020 In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services.
Jon Washburn
exaly +4 more sources
Hypothyroidism in late-onset Pompe disease
Molecular Genetics and Metabolism Reports, 2016 Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms ...
Joseph Schneider +4 more
doaj +2 more sources
Diagnosis, management and monitoring of patients with Pompe disease in the UK. [PDF]
BMJ Neurol OpenPompe disease is a rare, inherited metabolic disorder characterised by lysosomal acid alpha-glucosidase deficiency. The disease is classified into infantile-onset and late-onset forms and is treated with enzyme replacement therapy.
Díaz-Manera J +8 more
europepmc +2 more sources
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
Molecular Genetics and Metabolism Reports, 2014 Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity.
C. Papadopoulos +4 more
doaj +3 more sources
Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features [PDF]
Folia Neuropathologica, 2016 Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care.
Claire Dolfus +4 more
doaj +2 more sources
Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease. [PDF]
Int Breastfeed JBackground Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction ...
Bachmann M +7 more
europepmc +2 more sources
Validation and standardization of a fluorometric method for alpha glucosidase activity assay in the detection of Pompe disease [PDF]
Reviews in Clinical Medicine, 2023 Introduction: Pompe Disease is a type of lysosomal storage disease that is caused by a deficiency of the lysosomal alpha glucosidase. Pompe disease, as a multi-systemic disorder has a broad spectrum of clinical symptoms.
Armin Mokhtariye +4 more
doaj +1 more source
Newborn Screening for Pompe Disease [PDF]
, 2021 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment.
core +1 more source
Current status of newborn screening for Pompe disease in Japan
Orphanet Journal of Rare Diseases, 2021 Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle.
Takaaki Sawada +11 more
doaj +1 more source