Results 171 to 180 of about 8,917 (217)

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Is Brazil following global trends in high-cost treatments? The case of Pompe Disease. [PDF]

J Community Genet
Bento Dos Santos B, de Oliveira Carvalho Faria C, Cirilo HNC, Dornelles AD, de Oliveira Junior HA, Schwartz IVD.   +5 more
europepmc   +1 more source

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction. [PDF]

Front Genet
Sciacco M, Lucchiari S, Bertolasi L, Comi GP, Corti S, Ronchi D.   +5 more
europepmc   +1 more source

Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing. [PDF]

Neurohospitalist
Furuta Y, Agrawal NS, Grochowsky AR, Tinker RJ, Mobley BC, Jones KA, Cassini TA.   +6 more
europepmc   +1 more source

Precision medicine in action for Pompe disease. [PDF]

Mol Ther Nucleic Acids
Tarallo A, Parenti G, Brunetti-Pierri N.
europepmc   +1 more source

Pompe disease

, 2010
openaire   +1 more source

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Pompe's disease

The Lancet, 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
  +6 more sources

Pompe's Disease

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