Hereditary fructose intolerance and α1 antitrypsin deficiency

Archives of Disease in Childhood

Volumn 83, Issue 1, 2000, Pages 72-73

  Hillebrand, G ^a   Schneppenheim, R ^b   Oldigs, H D ^c   Santer, R ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

^c Municipal Hospital   (Germany)

Author keywords

1 antitrypsin deficiency; Hereditary fructose intolerance; Molecular genetics; Protease inhibitor typing

Indexed keywords

ALPHA 1 ANTITRYPSIN; FRUCTOSE; PROTEINASE INHIBITOR;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CASE REPORT; FAILURE TO THRIVE; GLYCOSYLATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; MALE; METABOLIC DISORDER; MOLECULAR GENETICS; NEWBORN; OBSTRUCTIVE JAUNDICE; PRIORITY JOURNAL;

ALPHA 1-ANTITRYPSIN DEFICIENCY; FRUCTOSE INTOLERANCE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR BIOLOGY; MUTATION; PROTEASE INHIBITORS;

EID: 2642513819     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.83.1.72     Document Type: Article

References (5)

1. 1 Cross NCP, de Franchis R, Sebastio G, et al. Molecular analysis of aldolase B gene in hereditary fructose intolerance. Lancet 1990;335:306-9.
2. 1-Antitrypsin deficiency detection by direct analysis of the mutation of the gene. Nature 1983;304:230-4.
3. 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294: 1316-21.
4. 4. Gitzelmann R, Baerlocher K. Vorteile und Nachteile der Fruktose in der Nahrung. Pädiatrische Fortbildungskurse für die Praxis 1973;37:40-55.
5. 5 Jaeken J, Pirard M, Adamowicz M, Pronicka E, van Schaftingen E. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediajr Res 1996;40:764-6.