Mucolipidosis IV is a gangliosidosis Also, glycogen storage disease type II (Pompe disease) is a defect in lysosomal metabolism as well, although it is otherwise...

worldwide. IPA - International Pompe Association. (Pompe Disease is also known as GSD-II). A non-profit, federation of Pompe disease patient's groups world-wide...

Zaal, K; Raben, N; Plotz, PH (Apr 2009). "Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches". Molecular Genetics...

Troponin I prevents myosin from binding to actin in relaxed muscle. When calcium binds to the troponin C, it causes conformational changes which lead to...

Mediterranean traditional dessert dishes, such as in France for the gibassier and pompe à l'huile or in Spain for the Roscón de Reyes (King cake), or in Italy for...

disease type V) is hypothyroidism. It is also a comorbidity of late-onset Pompe disease (Glycogen storage disease type II). As both hyper- and hypothyroidism...

include dehydration, low levels of certain minerals (magnesium, potassium, calcium, and sodium, although the evidence has been mixed), and reduced blood flow...

contractions. Afterwards, when a nerve signal is received, calcium channels in the SR open briefly and calcium rushes into the cytosol by selective diffusion (which...

Pujol, Teresa; Grau, Josep M. (2016-10-11). "Not only bright tongue sign in Pompe disease". Neurology. 87 (15): 1629–1630. doi:10.1212/WNL.0000000000003211...

chocolate and malt Food portal France portal Lists portal Crackling bread – Pompe aux grattons or brioche aux griaudes, in the cuisine of central France,...