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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2014

Autores

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

Revista

Título: Clinical Genetics

Vol. 85

Páginas: 184-188

ISSN: 0009-9163

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 1 Citação

Scopus - 1 Citação

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5