Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy2V, is an autosomal...

A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...

Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder, one of the metabolic myopathies, more specifically...

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

and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease type II. In transthyretin-related...

Railways Type 2 Diesel locomotives Diabetes mellitus type 2 German Type II submarine Glutaric acidemia type 2 Glycogen storage disease type II Hyper-IgM...

media related to Glycogen phosphorylase. GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type VI - Hers disease Glycogen+phosphorylase at the...

glycogen storage disease type II (Pompe disease). This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to...

Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated...

replacement therapy medication used for the treatment of glycogen storage disease type II (Pompe disease). The most common side effects include headache, fatigue...

(ERT) orphan drug for treatment of Pompe disease (Glycogen storage disease type II), a rare lysosomal storage disorder (LSD). Chemically, the drug is an...

highly branched glycogen molecule. Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease) in newborns...

disease type 6, due to phosphorylation Glycogen storage disease type 7 Glycogen storage disease type 9 Glycogen storage disease type II Glycogen storage disease...

miglustat, is a medication used for the treatment of glycogen storage disease type II (Pompe disease). Cipaglucosidase alfa is a recombinant human acid...

characterized the condition now known as Glycogen storage disease type II. It is sometimes referred to as Pompe disease. He studied medicine at the University...

comorbidity of late-onset Pompe disease (Glycogen storage disease type II). As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important...

Walter Pompe (1703–1777), Flemish master-sculptor Glycogen storage disease type II, or Pompe disease All pages with titles beginning with Pompe All pages...

Wechsler, Stephanie Burns; Weinstein, David A. (July 2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine...

cord. Metabolic causes includes: glycogen storage disease type II, pyruvate dehydrogenase deficiency, mitochondrial disease, Zellweger syndrome, Smith–Lemli–Opitz...

replacement therapy in patients with all subtypes of glycogen storage disease type II (Pompe's disease).” Subsequent research at Genzyme on NZ-1001 along...

conformation in response to the two denaturants. Glycogen storage disease type II, also called Pompe disease: a disorder in which α-glucosidase is deficient...

myelopathy (DM) and Pompe disease (also known as glycogen storage disease type II, GSD II), which is a progressive disorder of glycogen metabolism. The breed...

tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the...

glycogen storage disease type IV in the breed. This disorder, while rare, can prove fatal to cats that have it. Glycogen storage disease type IV due to...

enzymes involved in breaking down complex carbohydrates such as starch and glycogen into their monomers. They catalyze the cleavage of individual glucosyl...

mutations related to glycogen metabolism. GSD type II (Pompe disease) GSD type V (McArdle disease) GSD type VII (Tarui disease) GSD type XI (Lactate dehydrogenase...

diagnosed with a severe neuromuscular disorder glycogen storage disease type II, also called Pompe disease. In the face of the children's deteriorating...

congenital metabolic diseases, with prominent examples of each class. Disorders of carbohydrate metabolism glycogen storage disease G6PD deficiency Disorders...

parkinsonism linked to chromosome 17 Galactosemia Glycogen storage disease type II (Pompe disease) Hereditary neuropathy with liability to pressure palsies...

alcohol use disorder. Metabolic abetalipoproteinemia, glycogen storage diseases, Weber–Christian disease, acute fatty liver of pregnancy, lipodystrophy Nutritional...