We have located links that may give you full text access.
Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation.
European Journal of Pediatrics 2003 June
UNLABELLED: This paper presents data obtained by questionnaires sent to local hospitals and metabolic centres in Germany, Austria, Italy and Switzerland concerning the survival and outcome of patients with urea cycle disorders treated between 1975 and 1986. A total of 130 questionnaires were sent out of which 88 questionnaires of patients were returned. This study compares results of conservative long-term management using protein restriction versus protein restriction combined with more extensive treatment (arginine/citrulline, essential amino acid supplements and sodium benzoate as alternate pathway therapy). While survival was improved in neonates receiving extensive therapy, there was an increased risk of mental retardation on long-term follow-up in this group. The time at which the first symptoms of hyperammonaemia appeared, the age at diagnosis, and the time of delay in diagnosis after the first symptom were not helpful in predicting outcome; however, when plasma ammonia concentrations exceeded 300 micromol/l initially or 480 micromol/l at its peak, none of the patients had a normal cognitive outcome.
CONCLUSION: there is a need to establish improved treatment approaches and a network of "rare disease" centres to assure the rapid diagnosis and effective treatment and follow-up of affected children. This should precede any consideration of neonatal screening for urea cycle disorders.
CONCLUSION: there is a need to establish improved treatment approaches and a network of "rare disease" centres to assure the rapid diagnosis and effective treatment and follow-up of affected children. This should precede any consideration of neonatal screening for urea cycle disorders.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app