|
|
| Wajner,Moacir; Sitta,Angela; Kayser,Aline; Deon,Marion; Groehs,Ana C.; Coelho,Daniella M.; Vargas,Carmen R.. |
| Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at an early stage of life, diagnosis is crucial for the patients. In the present report, we describe symptomatic individuals referred to our service that were diagnosed with these disorders from 2006 to 2016. We used blood and urine samples from 21,800 patients suspected of aminoacidopathies or organic acidemias that were processed by the analytical techniques reverse phase high-performance liquid... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Organic acidurias; Aminoacidopathies; Inborn errors of metabolism; Selective screening. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200178 |
| |
