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

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons.

European journal of human genetics : EJHG - 1 Jan 2008

Coman David J

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cutis Laxa
Share to Genes, Recessive
Share to Glycosylation
Share to Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 18075505
DOI: 10.1038/sj.ejhg.5201962

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons.PMID 18075505Read ↗

Congenital disorders of glycosylation: have you encountered them?Semantic proximity Read ↗

Diseases of glycosylation beyond classical congenital disorders of glycosylationSemantic proximity Read ↗

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapiesSemantic proximity Read ↗

Congenital disorders of glycosylation (CDG): Quo vadis?Semantic proximity Read ↗

Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.Semantic proximity Read ↗

Glycosylation diseases: Quo vadis?Semantic proximity Read ↗

Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.Semantic proximity Read ↗

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

Update and perspectives on congenital disorders of glycosylation.Semantic proximity Read ↗

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosologySemantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an updateSemantic proximity Read ↗

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