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

A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.

Clinical pediatrics - 1 Jun 2023

Ozler Oguz, Egeli Bugra Han, Zeybek Selcan, Eris Erdem, Teke Kisa Pelin

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 Cataract
Share to Jaundice
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36411586
DOI: 10.1177/00099228221136120

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

A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.PMID 36411586Read ↗

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.Semantic proximity Read ↗

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.Semantic proximity Read ↗

Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.Semantic proximity Read ↗

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.Semantic proximity Read ↗

A case report of classic galactosemia with a GALT gene variant and a literature review.Semantic proximity Read ↗

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Semantic proximity Read ↗

Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson SyndromeSemantic proximity Read ↗

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.Semantic proximity Read ↗

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.Semantic proximity Read ↗

A KQ121 variant in the PC-1 gene and diabetic nephropathy: discrepant results between North and South Europe.Semantic proximity Read ↗

A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.Semantic proximity Read ↗

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Semantic proximity Read ↗

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