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

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Neuro endocrinology letters - 1 Jan 2014

Ondruskova Nina, Honzik Tomas, Vondrackova Alzbeta, Tesarova Marketa, Zeman Jiri, Hansikova Hana

Abstract excerpt

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosylation (CDG)....

Read the complete abstract on PubMed

Topics

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

Share to Central Nervous System
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease

Share to Intellectual Disability

Share to Microcephaly

Share to Mutation, Missense

Share to Phenotype

Share to Phosphoglucomutase

Source

Identifiers

PMID: 24878975

Genes

PGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.PMID 24878975Read ↗

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.Semantic proximity Read ↗

International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and managementSemantic proximity Read ↗

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.Semantic proximity Read ↗

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.Semantic proximity Read ↗

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Semantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in SpainSemantic proximity Read ↗

Multiple phenotypes in phosphoglucomutase 1 deficiency.Semantic proximity Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.Semantic proximity Read ↗

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.Semantic proximity Read ↗

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.Semantic proximity Read ↗

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