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

Unique presentation of cutis laxa with Leigh‐like syndrome due to ECHS1 deficiency

13 Apr 2017

Abstract excerpt

Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Folate and B Vitamins Research
Share to Trace Elements in Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28409271
DOI: 10.1007/s10545-017-0036-4

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

Unique presentation of cutis laxa with Leigh‐like syndrome due to ECHS1 deficiencyPMID 28409271Read ↗

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.Semantic proximity Read ↗

Cutis Laxa.Semantic proximity Read ↗

[Hereditary metabolic diseases with cutaneous manifestations : An update].Semantic proximity Read ↗

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.Semantic proximity Read ↗

Molecular basis of Leigh syndrome: a current look.Semantic proximity Read ↗

Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis.Semantic proximity Read ↗

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Semantic proximity Read ↗

ECHS1 deficiency and its biochemical and clinical phenotype.Semantic proximity Read ↗

Zellweger spectrum disorders: clinical overview and management approach.Semantic proximity Read ↗

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.Semantic proximity Read ↗

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Semantic proximity Read ↗

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.Semantic proximity Read ↗

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