ASS1 gene mutation in a neonate with citrullinemia type Ⅰ
Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations. Methods Genetic metabolic diseases were screened in the newborn baby using tandem mass spectrometry.
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Cheng S +6 more
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Metabolic consequences of arginine deprivation in ASS1-deficient cancers [PDF]
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Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate. [PDF]
Spada M, Porta F.
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