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Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease? [PDF]
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Lancet, The, 2008
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage.
Ans T Van Der Ploeg, Arnold J J Reuser
exaly +6 more sources
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage.
Ans T Van Der Ploeg, Arnold J J Reuser
exaly +6 more sources
Newborn Screening for Pompe Disease
Pediatrics, 2017 Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality.
Olaf A, Bodamer +2 more
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Pompe disease: A neuromuscular disease with respiratory muscle involvement
Respiratory Medicine, 2009 SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and rates of progression. However, specific clinical features, such as an early onset of respiratory problems preceding limb muscular weakness, distinguish ...
Uwe Mellies, Frédéric Lofaso
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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry [PDF]
Human Mutation, 2019 Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in ...
Arnold J J Reuser +2 more
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Pompe's disease and anaesthesia
Anaesthesia, 1986Summary A case report of a child with Pompe's disease (glycogen storage disease Cori type II), who underwent two general anaesthetics, is presented. The progressive infiltration of heart and skeletal muscle with glycogen results in a severe form of cardiomyopathy and respiratory muscle weakness.
H J, McFarlane, N, Soni
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Archives of Neurology, 2000
Over the past 25 years, the widespread application of genetic and biochemical techniques has revolutionized the way physicians, particularly neurologists, characterize and even name diseases. Pompe's disease, or glycogen storage disease type II, provides an excellent illustration of how an understanding of the molecular basis of a disease alters ...
openaire +2 more sources
Over the past 25 years, the widespread application of genetic and biochemical techniques has revolutionized the way physicians, particularly neurologists, characterize and even name diseases. Pompe's disease, or glycogen storage disease type II, provides an excellent illustration of how an understanding of the molecular basis of a disease alters ...
openaire +2 more sources