Results 1 to 10 of about 8,917 (217)

Diagnosis, management and monitoring of patients with Pompe disease in the UK [PDF]

BMJ Neurology Open
Pompe 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.
Jordi Diaz-Manera, Reena Sharma, James B Lilleker, Tarekegn Geberhiwot, Patrick Deegan, James Davison, Alexander Broomfield, Meredith K James, Rachel Gould   +8 more
doaj   +2 more sources

Pompe disease

East European Journal of Neurology, 2017
. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues ...
N. Svyrydova, О. Yelizarova, N. Svystun
  +5 more sources

Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease [PDF]

International Breastfeeding Journal
Background 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 ...
Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler   +7 more
doaj   +2 more sources

POMPE DISEASE [PDF]

Neuromuscular Disorders, 2021
H. van Kooten, I. Ditters, M. Hoogeveen-Westerveld, J. van den Hout, P. van Doorn, W. Pijnappel, A. van der Ploeg, N. van der Beek   +7 more
  +17 more sources

Sensory neuropathy in patients with Pompe disease: a case series in Iran [PDF]

BMC Musculoskeletal Disorders
Background Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of
Marzieh Babaee, Mahdieh Rahmati, Shima Dehdahsi, Hanns Lochmuller, Mohamad Hassan Bahrami, Vahide Zeinali, S. Mansoor Rayegani   +6 more
doaj   +2 more sources

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review [PDF]

Orphanet Journal of Rare Diseases
Background Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region.
Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser   +6 more
doaj   +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, Lida Hagh-Nazari, Abdol-Reza Varasteh, Hadi Mozafari, Fatemeh Keyfi   +4 more
doaj   +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, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura   +11 more
doaj   +1 more source

Familial Pompe Disease [PDF]

Medical Archives, 2015
Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy and respiratory failure develop.
Tecellioglu, Mehmet, Kamisli, Ozden
openaire   +2 more sources

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
doaj   +1 more source