Abstract
Guidelines are an important tool of evidence-based medicine which are based on a systematic literature review followed by critical appraisal of the evidence, careful formulation and grading of recommendations, and consensus finding. Guidelines are never finished, since they are based on the best evidence available. They should be understood as helpful guidance for decision-making. However, the ultimate judgment and decision on a specific treatment plan and follow-up is made by a healthcare professional or an interdisciplinary team of experts. This process includes the patient and his/her family; different options should be discussed with them and opportunities for individualization of treatment and follow-up considered.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Baumgartner MR, Hörster F, Assoun M et al (2014) Suggested guidelines for the diagnosis and management of methylmalonic and propionic acidemias. Orphanet J Rare Dis 9:130
Blau N, Bélanger-Quintana A, Demirkol M et al (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115
Häberle 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
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
Kölker S, Christensen E, Leonard JV et al (2011) Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis 34:677–694
Scottish Intercollegiate Guidelines Network (SIGN) (2014) SIGN 50: a guideline developer’s handbood. SIGN, Edinburgh, http://www.sign.ac.uk
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Kölker, S. (2017). Guidelines and Follow-Up. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_8
Download citation
DOI: https://doi.org/10.1007/978-3-662-49410-3_8
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-49408-0
Online ISBN: 978-3-662-49410-3
eBook Packages: MedicineMedicine (R0)