Results 1 to 10 of about 5,969 (170)

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

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
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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

Late-onset Pompe disease - literature review and summary of current knowledge

Quality in Sport, 2023
Introduction: Pompe disease is a glycogen storage disorder caused by the deficient activity of the lysosomal enzyme acid α-glucosidase (GAA). Mutations in the GAA gene lead to the accumulation of glycogen in different organs.
Karolina Jaskuła, Konrad Merkisz, Sylwia Nemeczek, Klaudia Walczak, Jakub Grzybowski, Agnieszka Marciniak, Władysław Orłowski, Natalia Grzywna, Patrycja Walczak, Weronika Salasa   +9 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

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

Frontiers in Neurology, 2023
ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the ...
Simon Lin, Simon Lin, Jama Nateqi, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Florian B. Lagler, Elmar Aigner, Elmar Aigner, Alistair G. Martin   +12 more
doaj   +1 more source

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease. [PDF]

PLoS ONE, 2013
OBJECTIVE: Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known.
Yin-Hsiu Chien, Der-Sheng Han, Wuh-Liang Hwu, Beth L Thurberg, Wei-Shiung Yang   +4 more
doaj   +1 more source