RT Journal Article
SR Electronic
T1 A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F55
OP F56
DO 10.1136/fn.71.1.F55
VO 71
IS 1
A1 Vanhole, C
A1 de Zegher, F
A1 Casaer, P
A1 Devlieger, H
A1 Wanders, R J
A1 Vanhove, G
A1 Jaeken, J
YR 1994
UL http://fn.bmj.com/content/71/1/F55.abstract
AB A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.