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...
18 KB (1,819 words) - 05:23, 3 April 2024
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...
68 KB (6,090 words) - 19:33, 8 June 2024
Zaal, K; Raben, N; Plotz, PH (Apr 2009). "Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches". Molecular Genetics...
7 KB (805 words) - 15:11, 17 June 2024
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...
18 KB (2,154 words) - 07:37, 20 April 2024
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...
5 KB (596 words) - 11:45, 18 April 2024
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...
19 KB (1,908 words) - 10:00, 2 June 2024
include dehydration, low levels of certain minerals (magnesium, potassium, calcium, and sodium, although the evidence has been mixed), and reduced blood flow...
19 KB (2,016 words) - 16:36, 8 June 2024
chocolate and malt Food portal France portal Lists portal Crackling bread – Pompe aux grattons or brioche aux griaudes, in the cuisine of central France,...
6 KB (662 words) - 17:12, 1 May 2024
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...
50 KB (5,222 words) - 04:10, 20 May 2024
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...
68 KB (3,992 words) - 10:01, 2 June 2024