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ARGININOSUCCINATE LYASE DEFICIENCY: LONGTERM OUTCOME OF 13 PATIENTS DETECTED BY NEWBORN SCREENING
Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this disorde...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2773214/ https://ncbi.nlm.nih.gov/pubmed/19635676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.06.011 |
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