Clinical, biochemical and genetic profile of WD patients in the S family.

aScreening refers to genetic screening of the ATP7B gene exons' by PCR followed by sequencing; bFew years later developed liver cirrhosis and portal hypertension;Normal ranges of: Serum ceruloplasmin: 0.15–0.60 g/; Serum Cu: 70–150 µg/dL; 24h urine Cu: 15–50 µg/24h; Bilirubin T/D: 0.2–1.2/0–0.5; blevel determined after 7 years of treatment; cUrinary Cu level while S41was on penicillamine; * c.2298_2299insC is referred to as 2299insC. DNA Mutation numbering is based on cDNA numbering where nucleotide +1 as the A of the ATG translation initiation codon, in the reference sequence # NM_000053 with the initiation codon aa codon +1.Clinical, biochemical and genetic profile of WD patients in the S family.