Two cases of late-onset Argininosuccinic aciduria with normal results at newborn screening

Argininosuccinic aciduria (ASA) is an autosomal recessive metabolic disorder caused by Argininosuccinate Lyase (ASL) deficiency, and it is the second most frequent urea cycle disorder, with an estimated frequency of 1:70 000. The human ASL gene is located on chromosome 7q11.21 and comprises 16 exons...

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Detalhes bibliográficos
Autor principal: Marcão, Ana (author)
Outros Autores: Fonseca, Helena (author), Sousa, Carmen (author), Rocha, Hugo (author), Silva, Francisco (author), Vilarinho, Laura (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2016
Assuntos:
Doenças Genéticas
Rastreio Neonatal
Doença Hereditária do Metabolismo
Aciduria Argininosuccinica
Texto completo:http://hdl.handle.net/10400.18/3637
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3637

Texto Completo

http://hdl.handle.net/10400.18/3637

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