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 |