RATIONALE. With no effective clearance system for ammonia, levels increase rapidly, resulting in cerebral edema with severe neurologic compromise. Dialysis is the only means of rapid removal of ammonia from blood in acute neonatal hyperammonemia, and hemodialysis is preferred over peritoneal dialysis because it is much more effective. If hemodialysis is not available, hemofiltration can be used...

Convention terminology. There follows a compilation of numerical abnormalities of chromosome constitution, again in order 1 to 22, X and Y. There is a table of syndromes associated with breakage syndromes. Associations of chromosome anomalies and cancer cell lines have been excluded. The preface contains seven tables, listing chromosome involved in polymorphisms, breakage, and aneuploidy syndro...

??vod: DÄ?dičnÄ? podm?­nÄ?n?Š poruchy metabolismu (DPM) aminokyselin (AMK), organick??ch kyselin (OA) a cyklu močoviny (UCD) p??edstavuj?­ heterogenn?­ skupinu 135 r??zn??ch onemocnÄ?n?­ zp??soben??ch poru??enou synt?Šzou, transportem či odbour??v??n?­m AMK, OA amoniaku. Jednotliv?? jsou vz??cn??, ale celkov?? v??skyt v populaci je 1 : 3000-4000. Metodika: Pr??ce shrnuje klinick?Š, diagnosti...