1,721,112 research outputs found
Executive functions impairment in early treated phenylketonuric (PKU) subjects with normal mental development.
No full textA new form of cerebral folate deficiency with severe self-injurious behaviour
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Intra- and inter-individual variations of blood Phe under 6R-BH4 loading in Phenylalanine Hydroxylase (PAH) deficiency.
No full textSimultaneous high-performance liquid chromatography determination of amino acids on a dried blood spot as a neonatal screening test. JOURNAL OF CHROMATOGRAPHY B. BIOMEDICAL APPLICATIONS. vol. 511, pp. 131-136 ISSN: 0378-4347.
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