Outcome of PiSS and PiSZ alpha-1-antitrypsin deficiency presenting with liver involvement

European Journal of Pediatrics

Volumn 164, Issue 4, 2005, Pages 250-252

  Hadzic, Nedim ^a   Francavilla, Ruggiero ^a   Chambers, Susan M ^a   Castellaneta, Stefania ^a   Portmann, Bernard ^a   Mieli Vergani, Giorgina ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; BILE DUCT ATRESIA; CHRONIC LIVER DISEASE; GENETIC POLYMORPHISM; HUMAN; LIVER CELL; LIVER FUNCTION; LIVER TRANSPLANTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; TREATMENT OUTCOME;

ALPHA 1-ANTITRYPSIN DEFICIENCY; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LIVER DISEASES; MALE; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 17444398064     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-1625-z     Document Type: Article

References (6)

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2. Lomas DA, Evans DL, Finch JT, Carrell RW (2000) The mechanism of Z alpha1-antitrypsin accumulation in the liver. Nature 357: 605-607
3. Mahadeva R, Chang WW, Dafforn TR, Oakley DJ, Foreman RC, Calvin J, Wight DG, Lomas DA (1999) Heteropolymerisation of S, I and Z α1-antitrypsin and liver cirrhosis. J Clin Invest 103: 999-1006
4. Miravittles M (2000) Alpha1-antitrypsin deficiency: epidemiology and prevalence. Resp Med 94: S12-S15
5. Pittschieler K, Massi G (1992) Liver involvement in infants with PiSZ phenotype of alpha1-antitrypsin deficiency. J Pediatr Gastroenterol Nutr 15: 315-318
6. Sveger T, Eriksson S (1995) The liver in adolescents with α1-antitrypsin deficiency. Hepatology 22: 514-517