Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study

20 Mar 2019

Abstract excerpt

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of nonspherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, we recorded all known French patients with PGK deficiency, and 3 unrelated patients were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Erythrocyte Function and Pathophysiology
Share to Glycogen Storage Diseases and Myoclonus
Share to Neurological and metabolic disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30887539
DOI: 10.1002/jimd.12087

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective studyPMID 30887539Read ↗

PGK deficiency.Semantic proximity Read ↗

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.Semantic proximity Read ↗

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.Semantic proximity Read ↗

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.Semantic proximity Read ↗

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.Semantic proximity Read ↗

Phosphoglycerate kinase 1 as a therapeutic target in neurological diseaseSemantic proximity Read ↗

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.Semantic proximity Read ↗

Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.Semantic proximity Read ↗

Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature reviewSemantic proximity Read ↗

Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.Semantic proximity Read ↗

Muscle Phosphoglycerate Mutase Deficiency RevisitedSemantic proximity Read ↗

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.