Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Journal of Inherited Metabolic Disease（2017）

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摘要

This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs.

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关键词

Nitric Oxide,Agmatine,Neurological Phenotype,Guanidinoacetate,Developmental Impairment

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