Results 121 to 130 of about 22,388 (216)

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

CRIM-negative infantile Pompe disease: 42-month treatment outcome [PDF]

, 2018
Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene.
Balmer, Christian, Baumgartner, Matthias, Klein, Andrea, Köhli-Wiesner, Alice, Lauener, Roger, Rohrbach, Marianne, Scheer, Ianina, Veraguth, Dorothe   +7 more
core  

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  

Identification of alterations of immunometabolism associated with Pompe disease. [PDF]

Cell Mol Life Sci
Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Silva Barcelos EC, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, van Wittenberghe L, Laforêt P, Gross DA, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source

A roadmap for a patient-centred approach to Pompe disease management. [PDF]

J Neurol
Schoser B, Domínguez-González C, Laforet P, Hahn A, Gissen P, Kostera-Pruszczyk A, Thalmeier A, Vissing J.   +7 more
europepmc   +1 more source

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms. [PDF]

Mol Metab
Venezia M, Russo M, Colomba P, Zizzo C, Vinci M, Marsana EM, D'Errico A, Giacalone I, Duro G, Moschetti M.   +9 more
europepmc   +1 more source

Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions. [PDF]

Front Neurol
Li G.
europepmc   +1 more source

Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI. [PDF]

Transl Res
Zeng Q, Li Y, Timm D, Johnson T, Mehta N, Martin L, Fox B, van Zijl PCM, Walter GA, Rosenberg JT, Kooi CWV, Corti M, Gentry MS, Sun RC, Byrne BJ, Yadav NN.   +15 more
europepmc   +1 more source

Identification of miRNAs Associated with Infantile-Onset Pompe Disease. [PDF]

Mol Syndromol
Bayrak H, Tosun F.
europepmc   +1 more source