Results 71 to 80 of about 20,098 (149)

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 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

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source

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

Frontiers in Neurology
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

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

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

Rhabdomyolysis: a narrative review. [PDF]

Arq Neuropsiquiatr
Tengan CH, Oliveira ASB, Carvalho AAS, Souza CDS, Sobreira CFDR, Zanoteli E, Silva HCAD.   +6 more
europepmc   +1 more source

Glycophagy: molecular mechanisms, regulatory signals, and disease associations. [PDF]

Autophagy Rep
Chen L, Jiang J, Liu M, Chen L.
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

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