Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency (Q100837): Difference between revisions

← Older edit

@@ Property / CURIE @@
+CID11:ID_564605304
@@ Property / CURIE: CID11:ID_564605304 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_564605304
@@ Property / Canary Token: dki-india-ID_564605304 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-15T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest revision as of 17:36, 16 August 2026

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency.

Language	Label	Description	Also known as
default for all languages	ID_564605304
English	Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency	Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency.