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

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.

European journal of human genetics : EJHG - 1 Sept 2020

Jaeken Jaak, Lefeber Dirk J, Matthijs Gert

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 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Cataract
Share to Coloboma
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Intellectual Disability

Share to Kyphosis

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 32424323
DOI: 10.1038/s41431-020-0647-3
PMCID: PMC7609305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.PMID 32424323Read ↗

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.Semantic proximity Read ↗

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Semantic proximity Read ↗

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.Semantic proximity Read ↗

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.Semantic proximity Read ↗

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.Semantic proximity Read ↗

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

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

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

Congenital disorders of glycosylation (CDG): state of the art in 2022.Semantic proximity Read ↗

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

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