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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Bibliographic Details
Main Author: Marcão, Ana (author)
Other Authors: Fonseca, Helena (author), Sousa, Carmen (author), Rocha, Hugo (author), Silva, Francisco (author), Vilarinho, Laura (author)
Format: conferenceObject
Language:eng
Published: 2016
Subjects:
Doenças Genéticas
Rastreio Neonatal
Doença Hereditária do Metabolismo
Aciduria Argininosuccinica
Online Access:http://hdl.handle.net/10400.18/3637
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3637

Internet

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

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