Guidelines & Resources
The following published guidelines have been reviewed by the Garrod Association Guidelines Committee for quality using the AGREE II framework (Appraisal of Guidelines for Research and Evaluation II), a standardized tool used to assess the methodological rigor and transparency of guideline development.
These represent the most recent international guidelines identified by the committee. It is important to note that guidelines in rare diseases are often based on the best available evidence, which may be limited.
These documents are intended to support, not replace, clinical judgment. Clinicians are encouraged to consider both the content of the guidelines and the results of the AGREE II appraisal when interpreting their quality and applicability to individual patients.
The Guidelines Committee welcomes comments and these can be sent to guidelines@garrod.ca.
International Guidelines Appraised using the AGREE II Tool
α-aminoadipic semialdehyde dehydrogenase deficiency
- Guidelines
- AGREE II Summary (to follow)
Cystathionine beta-synthase deficiency
- Guidelines
- AGREE II Summary (to follow)
Glutaric Aciduria Type 1
- Guidelines
- AGREE II Summary (to follow)
PA/MMA
- Guidelines
- AGREE II Summary (to follow)
PGM1-CDG
- Guidelines
- AGREE II Summary (to follow)
Pompe Disease
- Guidelines
- AGREE II Summary (to follow)
Tyrosinemia Type 1
- Guidelines
- AGREE II Summary (to follow)
Urea Cycle Defects
- Guidelines
- AGREE II Summary (to follow)
VLCADD
- Guidelines
- AGREE II Summary (to follow)
Canadian Medical Resources
- Canadian Consensus Position Statement for the Diagnosis and Management of MPS II
- Fabry Disease Treatment Guidelines
- Enzyme Replacement Treatment Eligibility Form
- Hypophosphatasia, recommendations and resources from the National Canadian HPP Clinical Expert Committee
- Ontario Guidelines for Treatment of Gaucher Disease by Enzyme Replacement with Imiglucerase or Velaglucerase, or Substrate Reduction Therapy with Miglustat (Version 9; August 2011)