Results 61 to 70 of about 19,271 (154)

Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the <i>GAA</i>:c.1799G>A and c.55G>A Variants. [PDF]

Genes (Basel)
Faruq AA, Rakib TM, Islam MS, Yabuki A, Pervin S, Maki S, Tanaka S, Arakawa N, Yamato O.   +8 more
europepmc   +1 more source

A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II. [PDF]

J Enzyme Inhib Med Chem
Iacono R, Paragliola FMP, Strazzulli A, Moracci M.   +3 more
europepmc   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

JCI Insight
Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally
Rebecca L. Koch, Bridget T. Kiely, Su Jin Choi, William R. Jeck, Leticia S. Flores, Vikrant Sood, Seema Alam, Gilda Porta, Katy LaVecchio, Claudia Soler-Alfonso, Priya S. Kishnani   +10 more
doaj   +1 more source

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. [PDF]

Medicine (Baltimore)
Feng Q, Zhang MQ, Ba CX, Zhang YQ.
europepmc   +1 more source

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). [PDF]

Orphanet J Rare Dis
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT, and the MetabERN Subnetwork for Lysosomal Disorders.   +21 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

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

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]

Biomedicines
Teresi L, Trimarchi G, Licordari R, Restelli D, Taverna G, Liotta P, Micari A, Smecca I, Dendramis G, Turturiello D, Latini AC, Falasconi G, de Gregorio C, Crea P, Dattilo G, Berruezo A, Micari A, Di Bella G.   +17 more
europepmc   +1 more source

CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III. [PDF]

Commun Biol
Daghar H, Pyman B, Maios C, Doyle J, Perlstein E, Samarut É, Parker JA.   +6 more
europepmc   +1 more source