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 disorder. Twelve patients with argininosuccinate lyase deficiency… (More)
DOI: 10.1016/j.ymgme.2009.06.011


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