Glycogen storage disease due to glycogen phosphorylase kinase deficiency (Q84792): Difference between revisions
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A doença de depósito de glicogênio (DDG) devido à deficiência de fosforilase quinase é um grupo de erros inatos do metabolismo do glicogênio que é clínica e geneticamente heterogêneo. Este grupo compreende DDG devido à deficiência de fosforilase quinase hepática, devido à deficiência de fosforilase quinase muscular e devido à deficiência de fosforilase quinase hepática e muscular (ver estes termos). | |||
| description / en | description / en | ||
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). | |||
Revision as of 10:08, 15 August 2026
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1544583473 |
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| English | Glycogen storage disease due to glycogen phosphorylase kinase deficiency |
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). |
