Avtor/Urednik     Paro-Panjan, D; Neubauer, D; Kornhauser-Cerar, L; Novosel-Sever, M; Bratanič, B
Naslov     Zellweger syndrome. A case report
Tip     članek
Vir     In: Veličkovič-Perat M, editor. New developments in child neurology. The presentation from the 8th international neurology congress; 1998 Sep 13-17; Ljubljana. Bologna: Monduzzi editore,
Leto izdaje     1998
Obseg     str. 149-52
ISBN     39861
Jezik     eng
Abstrakt     Zellweger syndrome is a peroxisomal disorder with general impairment of peroxisomal functions. A boy with a typical clinical picture is presented and diagnostic procedures are discussed. It is streesed that the peroxisomal disorders should be included as a part of differential diagnosis in a newborn with dysmorphic features and profound neurologic dysfunction.
Deskriptorji     ZELLWEGER SYNDROME
INFANT, NEWBORN