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Typically, blood ammonia concentrations 35 mol/l ( 200 mol/l (341 g/dl) are associated with poor neurological outcomes 2
These observations are derived from the experience of expanded newborn screening programs that identified maternal PCD in mothers who were for the most part minimally symptomatic or asymptomatic.30) Unfortunately, the first clinical manifestation in asymptomatic individuals may be sudden death
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Gaudry et al
Cancer 143 , 9921002 (2018)
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