MOLYBDENUM COFACTOR DEFICIENCY IN 2 SIBLINGS - DIAGNOSTIC DIFFICULTIES

Citation
Lk. Hansen et al., MOLYBDENUM COFACTOR DEFICIENCY IN 2 SIBLINGS - DIAGNOSTIC DIFFICULTIES, European journal of pediatrics, 152(8), 1993, pp. 662-664
Citations number
13
Categorie Soggetti
Pediatrics
ISSN journal
03406199
Volume
152
Issue
8
Year of publication
1993
Pages
662 - 664
Database
ISI
SICI code
0340-6199(1993)152:8<662:MCDI2S>2.0.ZU;2-Z
Abstract
Two siblings with molybdenum cofactor deficiency are presented. They s howed clinical, biochemical and neuroradiological features very simila r to those of the few previously described cases. Difficulties in diag nosis are emphasised.