Results 101 to 110 of about 8,804 (200)

microRNAs as biomarkers in Pompe disease

, 2018
We studied microRNAs as potential biomarkers for Pompe ...
Carissimo, Annamaria, DAMIANO, CARLA, Toscano, Antonio, Vercelli, Liliana, COLETTA, MARCELLA, Karali, Marianthi, Pijnappel, W W Pim, Fecarotta, Simona, Acampora, Emma, van der Ploeg, Ans T, Santoro, Lucio, Bembi, Bruno, Banfi, Sandro, Mongini, Tiziana, Dardis, Andrea, MINOPOLI, NADIA, Gatto, Francesca, Ruggiero, Lucia, Musumeci, Olimpia, Nusco, Edoardo, Deodato, Federica, Parenti, Giancarlo, TARALLO, ANTONIETTA, Taurisano, Roberta, Della Casa, Roberto   +24 more
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Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

, 2008
Muscle weakness is the main symptom of Pompe disease, a lysosomal storage disorder for which major clinical benefits of enzyme replacement therapy (ERT) have been documented recently. Restoration of skeletal muscle function is a challenging goal.
Reuser, A.J., Drost, MR, Capelle, Carine, van der Vusse, GJ, Reuser, Arnold, Drost, M.R., Schaart, G, van Capelle, C.I., Delhaas, T.; id_orcid, van Dijk, P., van der Ploeg, Ans, Delhaas, T, Schaart, G., Delhaas, T., van der Vusse, G.J., van Dijk, P, van der Ploeg, A.T.   +16 more
core   +1 more source

Airway smooth muscle pathology in Pompe Disease

, 2016
Pompe disease is a rare autosomal recessive disease which results from a deficiency of acid α-glucosidase (GAA) - an enzyme that degrades lysosomal glycogen. Patients with Pompe disease develop intra-lysosomal accumulation of glycogen in multiple tissues
Xiong, Lang, Lui, Donghai, Zhuge, Ronghua, Keeler, Allison M, Desrochers, Kaitlyn, Elmallah, Mai K.   +5 more
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

BMC Pediatrics
Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues.
Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh   +3 more
doaj   +1 more source

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

Frontiers in Immunology
IntroductionPompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD).
Hui-An Chen, Hui-An Chen, Hui-An Chen, Rai-Hseng Hsu, Rai-Hseng Hsu, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Ni-Chung Lee, Ni-Chung Lee, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien, Yin-Hsiu Chien, Yin-Hsiu Chien   +18 more
doaj   +1 more source

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

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   +1 more source

Headache: A Presentation of Pompe Disease; A Case Report

Caspian Journal of Neurological Sciences, 2017
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab, Reza Boostani, Ali Ghabeli-Juibary, Sara Mali   +3 more
doaj  

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

, 2016
BACKGROUND: -Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction (AMI) or myocardial injury.
Wens, Stephan, van Schaik, Ron H. N., van der Ploeg, Ans T., in't Groen, Stijn, van der Ploeg, Ans, Michels, Michelle, van Schaik, Ron, Pijnappel, Pim, Demmers, Jeroen, Brusse, Esther; id_orcid, van Gestel, Tom J. M., Michels, Michelle; id_orcid, Verdijk, Lex B., Pijnenburg, Joon, Pijnappel, W. W. M. Pim, Dekkers, Dick, in 't Groen, Stijn, van Doorn, Pieter; id_orcid, Wens, Stephan C. A., Kruijshaar, Michelle; id_orcid, Schaaf, Gerben J., Kruijshaar, Michelle, van Doorn, Pieter, Kruijshaar, Michelle E., Demmers, Jeroen A. A., van Doorn, Pieter A., Gestel, Tom, Brusse, Esther, Dekkers, Dick H. W., Verdijk, LB, Schaaf, Gerben   +30 more
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Skeletal muscle magnetic resonance imaging in Pompe disease

, 2021
\ua9 2020 Wiley Periodicals LLCPompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability.
Walter G, Diaz-Manera J, Straub V
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