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Table 1 Laboratory results of our patient

From: From hypertransaminasemia to mucopolysaccharidosis IIIA

Parameter

Result

Reference range

ALT [U/L]

144

<29

AST [U/L]

73

<36

Bilirubin [mg/dL]

1.7

1.5

GGT [U/L]

34

<29

CK [U/L]

98

<149

IgG [mg/dL]

521

504-1464

Total cholesterol [mg/dL]

111

<170

Triglyceride [mg/dL]

58

<75

HBs-Antigen

Negative

Negative

Anti-HCV antibodies

Negative

Negative

Anti-EBV antibodies

Negative

Negative

Anti-CMV antibodies

Negative

Negative

Lysosomal acid lipase [pmol/punch/hr]

0.61

0.37-2.3

α-1-antitrypsin [g/L]

1.3

0.9-2.0

Ceruloplasmin [g/L]

0.3

0.15-0.3

Serum copper [ug/L]

1106

900-1900

24-hour urinary copper [ug/24 h]

<10

<60