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Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate i...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509549/
https://ncbi.nlm.nih.gov/pubmed/27515243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_2
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