Evaluation of implementation, adaptation and use of the recently proposed urea cycle disorders guidelines

JIMD Reports

Volumn 21, Issue , 2015, Pages 65-70

  Häberle, Johannes ^a   Huemer, Martina ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Agree instrument; Guidelines; Sign methodology; Urea cycle disorders

Indexed keywords

EID: 84952369210     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_387     Document Type: Chapter

References (15)

1. Arnold GL, Koeberl DD, Matern D et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–370
2. Arnold GL, Van Hove J, Freedenberg D et al (2009) A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96:85–90
3. Burgers JS, Fervers B, Haugh M, Brouwers M, Browman G, Philip T, Cluzeau FA (2004) International assessment of the quality of clinical practice guidelines in oncology using the Appraisal of Guidelines and Research and Evaluation Instrument. J Clin Oncol 22:2000–2007
4. Gross PA, Greenfield S, Cretin S et al (2001) Optimal methods for guideline implementation: conclusions from Leeds Castle meeting. Med Care 39:II85–II92
5. Haberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32
6. Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752
7. Kishnani PS, Austin SL, Arn P et al (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12:446–463
8. Knai C, Brusamento S, Legido-Quigley H et al (2012) Systematic review of the methodological quality of clinical guideline development for the management of chronic disease in Europe. Health Policy 107:157–167
9. Kölker S, Christensen E, Leonard JV et al (2011a) Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis 34:677–694
10. Kölker S, Dobbelaere D, Chakrapani A et al (2011b) European registry and network for intoxication type metabolic diseases (E-IMD) (Abstract). J Inher Metab Dis 34:S93
11. Legido-Quigley H, Panteli D, Brusamento S et al (2012) Clinical guidelines in the European Union: mapping the regulatory basis, development, quality control, implementation and evaluation across member states. Health Policy 107:146–156
12. Spiekerkoetter U, Lindner M, Santer R et al (2009) Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 32:498–505
13. Tuchman M, Lee B, Lichter-Konecki U et al (2008) Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 94:397–402
14. Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N (2013) Improving surveillance for hyperammone-mia in the newborn. Mol Genet Metab 110:102–105
15. Vockley J, Chapman KA, Arnold GL (2013) Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab 108:203–205