Guidelines and Resources
This website contains general information about medical conditions and treatments. The information is not advice, and should not be treated as such.
Guidelines committee welcomes comments and these can be sent to Dr. Michal Inbar-Feigenberg, chair of the guidelines committee at michal.inbar-feigenberg@sickkids.ca
Table of Contents
Table of Contents
Amino Acid- and Organic Acid Metabolism
Amino Acid- and Organic Acid Metabolism
GA1-guidelines-2nd-revision.pdfGlutaric Aciduria
Glutaric Aciduria
Tyrosinemia-type-1-recommendations.pdfTyrosinemia Type 1 Recommendations
Tyrosinemia Type 1 Recommendations
J of Inher Metab Disea - 2021 - Forny - Guidelines for the diagnosis and management of methylmalonic acidaemia and.pdfMethylmalonic aciduria/propionic aciduria
Methylmalonic aciduria/propionic aciduria
MMA_PA_suppplimentation.pdfMMA/PA suppplimentation
MMA/PA suppplimentation
Links for PKU Guidelines
Links for PKU Guidelines
NIH PKU conference and Agency for healthcare research and quality
Carbohydrate Metabolism
Carbohydrate Metabolism
Lysosomal Storage Disorders
Lysosomal Storage Disorders
pompe-disease-diagnosis-and-management-evidence-based-guidelines-from-a-canadian-expert-panel-div.pdfPompe Disease Guidelines
Pompe Disease Guidelines
MPS-II.Consensus.d11.June111.pdfMPS II – Consensus Position Statement
MPS II – Consensus Position Statement
NPC-Canadian-Guidelines-June-5-2015.pdfNiemann Pick C
Niemann Pick C
Morquio-A-Guidelines.pdfElosulfase alfa in the management of Morquio A Syndrome
Elosulfase alfa in the management of Morquio A Syndrome
Fabry Disease
Fabry Disease
Treatment-eligibility-form-Dec-2018-For-Sites.pdfEnzyme Replacement Treatment Eligibility Form
Enzyme Replacement Treatment Eligibility Form
Canadian-Fabry-Treatment-Guidelines-2018-final.pdfTreatment Guidelines
Treatment Guidelines
Gaucher Disease
Gaucher Disease
ONTARIO-GUIDELINES-FOR-TREATMENT-OF-GAUCHER-August-2011-2.pdfGuidelines for Gaucher Disease
Guidelines for Gaucher Disease
ONTARIO GUIDELINES FOR TREATMENT OF GAUCHER DISEASE BY ENZYME REPLACEMENT WITH IMIGLUCERASE OR VELAGLUCERASE, OR SUBSTRATE REDUCTION THERAPY WITH MIGLUSTAT (Version 9; August 2011)
Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
2021_Altasan_PGM1CDGGuidelines_JIMD.pdfInternational consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
Other
Other
Hypophophatasia
Hypophophatasia
Garrod-Association-Letter-Oct-7-2021.pdfD-tagatase, Hereditary Fructose Intolerance and Health Canada approval
D-tagatase, Hereditary Fructose Intolerance and Health Canada approval
Canadian-HPP-Clinical-Expert-Committee-TOR-June-26-2018.pdfTerms of Reference for the National Canadian HPP Clinical Expert Committee
Terms of Reference for the National Canadian HPP Clinical Expert Committee
HPP-Prescribing-Criteria-Overview-June-27-2018.pdfPrescribing Criteria
Overview
Prescribing Criteria
Overview
HPP-ERT-Application-Clinical-Summary-Form.pdfHPP ERT
Application Form
HPP ERT
Application Form
HPP-Neonatal-Guidelines.pdfHPP Neonatal
Guidelines
HPP Neonatal
Guidelines
HPP-Treatment-References-2016-2019.pdfHPP Treatment
References
HPP Treatment
References
Evaluation and endorsement of existing guidelines using the AGREE II tool
Evaluation and endorsement of existing guidelines using the AGREE II tool
Summary of tyrosinemia I guideline review using the AGREE II tool_April_13_2023.pdfDiagnosis and treatment of tyrosinemia type I
Diagnosis and treatment of tyrosinemia type I
summary of PA-MMA guideline review using the AGREE II tool_April_13_2023.pdfGuidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia
summary of GA1 guidline review using the AGREE II tool_April_13_2023.pdfProposed recommendations for diagnosing and managing individuals with glutaric aciduria type I
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I
Summary of Pompe guidelines review using the AGREE II tool_December_29_2022.docxPompe Disease, Summary of Guidelines Review, Dec. 2022
Pompe Disease, Summary of Guidelines Review, Dec. 2022
AGREE-Reporting-Checklist-2016.pdfAGREE-Reporting-Checklist-2016
AGREE-Reporting-Checklist-2016