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

Topics Community

Article

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

Journal of inherited metabolic disease - 1 May 2013

Pérez Belén, Medrano Celia, Ecay Maria Jesus, Ruiz-Sala Pedro, Martínez-Pardo Mercedes, Ugarte Magdalena, Pérez-Cerdá Celia

Abstract excerpt

Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of genetic diseases caused by defects in the synthesis (CDG-I) or processing (CDG-II) of glycans that form glycoconjugates. This paper reports a new subtype of non-neurological CDG involving the impaired cytoplasmic biosynthesis of nucleotide sugars needed for...

Topics

Adolescent
Carbohydrate Metabolism
Carbohydrate Sequence
Central Nervous System
Congenital Disorders of Glycosylation
DNA Mutational Analysis
Humans
Male
Molecular Sequence Data
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoglucomutase

Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 22976764
DOI: 10.1007/s10545-012-9525-7

Genes

PGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.PMID 22976764Read ↗

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

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

Multiple phenotypes in phosphoglucomutase 1 deficiency.Semantic proximity Read ↗

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.Semantic proximity Read ↗

Congenital disorders of glycosylation: new defects and still counting.Semantic proximity Read ↗

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.Semantic proximity Read ↗

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

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

Congenital disorders of glycosylationSemantic proximity Read ↗

Congenital disorders of glycosylation with neonatal presentation.Semantic proximity Read ↗

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.Semantic proximity Read ↗

Congenital disorder of glycosylation-Ic: case report and genetic defect.Semantic proximity Read ↗

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