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

Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

Canadian journal of gastroenterology = Journal canadien de gastroenterologie - 1 Jun 2012

Amson Meghan, Lamoureux Esther, Hilzenrat Nir, Tischkowitz Marc

Abstract excerpt

The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal live...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Alagille Syndrome
Share to Cation Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Copper-Transporting ATPases

Share to Hepatolenticular Degeneration

Share to Liver Function Tests

Share to Siblings

Share to Ursodeoxycholic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 22720273
DOI: 10.1155/2012/176543
PMCID: PMC3378278

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22720273-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.PMID 22720273Read ↗

Genetics of Wilson's disease: a clinical perspective.Semantic proximity Read ↗

Coexistence of Alagille Syndrome and Biliary Atresia in a Neonate: A Case ReportSemantic proximity Read ↗

A rare case of hemochromatosis and Wilson's disease coexisting in the same patient.Semantic proximity Read ↗

Lysosomal acid lipase deficiency in all siblings of the same parents.Semantic proximity Read ↗

Alagille syndrome with a previously undescribed mutation.Semantic proximity Read ↗

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.Semantic proximity Read ↗

Metabolic liver disease in the young adult.Semantic proximity Read ↗

Two families with Wilson disease in which siblings showed different phenotypes.Semantic proximity Read ↗

Heterozygotes and liver involvement.Semantic proximity Read ↗

Alagille syndrome: family studies.Semantic proximity Read ↗

Hepatocellular Carcinoma in Paediatric Patients with Alagille Syndrome: Case Series and Review of Literature.Semantic proximity Read ↗

A case of concomitant Gilbert's syndrome and hereditary spherocytosis.Semantic proximity Read ↗

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