Results 141 to 150 of about 6,173 (169)
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Pompe disease in infants and children
The Journal of Pediatrics, 2004Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder caused by a deficiency of acid α-glucosidase (GAA, also referred to as acid maltose). 1 This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle
Priya Sunil, Kishnani, R Rodney, Howell
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Pompe disease and physical disability
Developmental Medicine & Child Neurology, 2003This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease‐specific functional instrument.
Stephen M, Haley +2 more
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Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives
Therapeutics and Clinical Risk Management, 2023David Mummy +2 more
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Cardiovascular disease in non-classic Pompe disease: A systematic review
Neuromuscular Disorders, 2021, Ans Van Der Ploeg, P A Van Doorn
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The First Year Experience of Newborn Screening for Pompe Disease in California
International Journal of Neonatal Screening, 2020Hao Tang +2 more
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Newborn Screening for Pompe Disease: Pennsylvania Experience
International Journal of Neonatal Screening, 2020Rebecca Ahrens-Nicklas +2 more
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Pompe disease: A neuromuscular disease with respiratory muscle involvement
Respiratory Medicine, 2009Frédéric Lofaso, Uwe Mellies
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