Glycogen storage disease due to glycogen phosphorylase kinase deficiency (Q84792): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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).
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@@ Property / CURIE: CID11:ID_1544583473 / rank @@
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@@ Property / Canary Token: dki-india-ID_1544583473 / rank @@
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+Concluído
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@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
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++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
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-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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).