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Results One client with a heterozygous HPD gene (NM_002150.2) c.460G A mutation plus one client with a heterozygous HPD gene (NM_002150.2) c.248delG mutation showing elevated tyrosine amounts upon newborn evaluating by combination size spectrometry (MS/MS) tend to be reported. Conclusions The HPD gene might not be a strictly autosomal recessive pathogenic gene, which supplies a brand new perspective when it comes to clinical comprehension of th