Work

Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.

Year: 2014

Type: article

Study design: Case Report

Source: PubMed

Authors: Stanislav Sutovský, Miriam Kolníková, Róbert Petrovic, Branislav Kollár, Pavel Siarnik, Ján Chandoga, Mária Fischerová, Peter Turcáni

Institutions: Comenius University Bratislava, University Hospital Bratislava

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2185707947

FWCI: 0.425

Cites: 14

Cited by: 4

Related to: 10