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

[Congenital glycosylation disorders: a study of two patients].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Mar 2012

Palencia R, Higuera N, Vázquez S

Abstract excerpt

BACKGROUND: Congenital glycosylation disorders (CGDs) are a group of disorders caused by a defect in glycoprotein synthesis. Clinical manifestations may affect to different organs. AIMS: To describe two new patients cases with a CGD in order to make paediatricians aware of this disorder. CLINICAL CASES: Two new cases of different age and gender are presented, showing clinical manifestations, and radiological and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Congenital Disorders of Glycosylation
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 22115835
DOI: 10.1016/j.anpedi.2011.10.006

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

[Congenital glycosylation disorders: a study of two patients].PMID 22115835Read ↗

Congenital Disorders of Glycosylation from a Neurological PerspectiveSemantic proximity Read ↗

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

Congenital disorders of glycosylation: a booming chapter of pediatrics.Semantic proximity Read ↗

Congenital disorders of glycosylation--a challenging group of IEMs.Semantic proximity Read ↗

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].Semantic proximity Read ↗

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

Congenital disorders of glycosylation.Semantic proximity Read ↗

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

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Semantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.Semantic proximity Read ↗

[Molecular diagnosis of congenital disorders of glycosylation].Semantic proximity Read ↗

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