Results 41 to 50 of about 20,098 (149)

Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model

Annals of Medicine
Introduction Acid α-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to glucose. Deficiency of GAA causes Pompe disease (PD), also known as glycogen storage disease type II. The resulting glycogen accumulation causes a spectrum of disease
David Merberg, Rodney Moreland, Zhenqiang Su, Bin Li, Bob Crooker, Kathleen Palmieri, Simon W. Moore, Andrew Melber, Ruby Boyanapalli, Galen Carey, Mahindra Makhija   +10 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  

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Chinese Medical Journal, 2018
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype ...
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban   +4 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

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

Public Health Genomics, 1999
<i>Objectives:</i> To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which medical disciplines recognize GSD II.
Ausems, M.G.E.M., Berg, K. ten, Kroos, M.A., Diggelen, O.P. van, Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., Ploeg, A.T. van der, Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J.   +11 more
openaire   +6 more sources

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Frontiers in Neurology
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen.
Barry J. Byrne, Giancarlo Parenti, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar   +17 more
doaj   +1 more source

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BMC Medical Genetics, 2019
Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene.
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti   +12 more
doaj   +1 more source

Molecular basis and clinical management of Pompe disease

Cardiogenetics, 2013
Pompe disease (glycogenosis type II) is a rare autosomal recessive lysosomal storage disorder due to mutations of the GAA gene, leading to the deficiency of acid α-glucosidase and consequent glycogen storage in various tissues, mainly in the ...
Giancarlo Parenti, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, Generoso Andria   +9 more
doaj   +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

Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

Orphanet Journal of Rare Diseases
Background Late-onset Pompe’s disease (LOPD) is a progressive treatable metabolic myopathy due to partial acid α-glucosidase (GAA) deficiency, with potential onset during the pediatric age.
Marco Spada, Serena Gasperini, Massimiliano Filosto, Guja Astrea, Beatrice Bracci, Claudio Bruno, Alberto Burlina, Anna Cavallini, Daniela Concolino, Viola Crescitelli, Adele D’Amico, Federica Deodato, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Rita Fischetto, Agata Fiumara, Francesca Furlan, Vincenza Gragnaniello, Damiano Mala, Monica Marica, Francesca Menni, Veronica Pagliardini, Claudia Panicucci, Giancarlo Parenti, Andrea Pession, Federica Ricci, Valentina Rovelli, Michele Sacchini, Filippo Maria Santorelli, Lucia Santoro, Maurizio Scarpa, Roberta Taurisano, Albina Tummolo, Francesco Porta   +34 more
doaj   +1 more source