Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

• Type: Article in International Scientific Journal
• Date: 2014

Authors

Cardoso, ML (Author) Other; Barbosa, M (Author) Other; Serra, D (Author) Other; Martins, E (Author) Other; Fortuna, A (Author) Other; Reis Lima, M (Author) Other; Bandeira, A (Author) Other; Balreira, A (Author) Other; Franklim Marques (Author) FFUP

Journal

Title: Clinical Genetics

Vol. 85

Pages: 184-188

ISSN: 0009-9163

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 1 Citation

Scopus - 1 Citation

Other information

Authenticus ID: P-008-QF7

DOI: 10.1111/cge.12139

Abstract (EN): In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5