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

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Journal of inherited metabolic disease - 1 Mar 2023

De Feyter S, Beyens A, Callewaert B

Abstract excerpt

In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed...

Read the complete abstract on PubMed

Topics

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

Share to Copper
Share to Copper-Transporting ATPases
Share to Cutis Laxa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Menkes Kinky Hair Syndrome

Share to Mutation

Share to Neurodegenerative Diseases

Share to Peptide Fragments

Source

Identifiers

PMID: 36692329
DOI: 10.1002/jimd.12590

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

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.PMID 36692329Read ↗

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Semantic proximity Read ↗

Menkes disease in affected females: the clinical disease spectrum.Semantic proximity Read ↗

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.Semantic proximity Read ↗

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.Semantic proximity Read ↗

Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.Semantic proximity Read ↗

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727RSemantic proximity Read ↗

ATP7A-related copper transport diseases—emerging concepts and future trendsSemantic proximity Read ↗

Wilson disease and related copper disorders.Semantic proximity Read ↗

Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.Semantic proximity Read ↗

Leveraging Clinical, Functional, Molecular and Population Genetic Data Reveals Genotype Phenotype Association and Health Disparity in a Monogenic Disorder, CTXSemantic proximity Read ↗

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Semantic proximity Read ↗

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.Semantic proximity Read ↗

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