3-phosphoglycerate dehydrogenase deficiency (Q85499): Difference between revisions

← Older edit

@@ Property / CURIE @@
+CID11:ID_460538363
@@ Property / CURIE: CID11:ID_460538363 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_460538363
@@ Property / Canary Token: dki-india-ID_460538363 / 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 +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 10:51, 15 August 2026

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form

Language	Label	Description	Also known as
default for all languages	ID_460538363
English	3-phosphoglycerate dehydrogenase deficiency	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form