Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies
J. inborn errors metab. screen
;
6: e180018, 2018. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090951
ABSTRACT
Abstract The clinical as well as biochemical and genetic spectrum of peroxisomal diseases has markedly increased over the last few years, thanks to the revolutionary advances in the field of genome analysis and several -omics technologies. This has led to the recognition of novel disease phenotypes linked to mutations in previously identified peroxisomal genes as well as several hitherto unidentified peroxisomal disorders. Correct interpretation of the wealth of data especially coming from genome analysis requires functional studies at the level of metabolites (peroxisomal metabolite biomarkers), enzymes, and the metabolic pathway(s) involved. This strategy is not only required to identify the true defect in each individual patient but also to determine the extent of the deficiency as described in detail in this article.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Holanda
Instituição/País de afiliação:
University of Amsterdam/NL
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