RT Journal Article
SR Electronic
T1 Liver damage in a neonate with alpha-1-antitrypsin deficiency due to phenotype PiZ null (Z<sup>-</sup>)
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 311
OP 313
DO 10.1136/adc.57.4.311
VO 57
IS 4
A1 John Burn
A1 David Dunger
A1 Brian Lake
YR 1982
UL http://adc.bmj.com/content/57/4/311.abstract
AB An infant with neonatal liver damage had α-1-antitrypsin deficiency, having inherited the Z allele from the father and the rare null allele from the mother. This indicates that while a lack of serum antiprotease predisposes to early liver disease, homozygosity for the Z allele is not essential.