International guidelines

United Kingdom

Cipaglucosidase alfa for treating late onset Pompe disease

Published by:National Institute for Health and Care Excellence

Last published:2023

Pegunigalsidase alfa for treating Fabry disease

Published by:National Institute for Health and Care Excellence

Last published:2023

Elosulfase alfa for treating mucopolysaccharidosis type 4A

Published by:National Institute for Health and Care Excellence

Last published:2022

Europe

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Published by:French Fabry Disease Working Group

Last published:2019

Management goals for type 1 Gaucher disease: an expert consensus document from the European working group on Gaucher disease

Published by:European working group on Gaucher disease

Last published:2018

European expert consensus statement on therapeutic goals in Fabry disease

Published by:European Fabry Disease Expert Group

Last published:2018

North America

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

Published by:American College of Medical Genetics

Last published:2020

Asia

Diagnosis and management of Gaucher disease in India - consensus guidelines

Published by:Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Last published:2018

Rest of the world

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)

Published by:Orphanel Journal of Rare Diseases

Last published:2023

An expert consensus on practical recommendations and guidance for patients with classic Fabry disease

Published by:Molecular Genetics and Metabolism

Last published:2022

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Published by:Orphanet Journal of Rare Diseases

Last published:2019

Fabry disease revisited: management and treatment recommendations for adult patients

Published by:International Panel of Physicians with Expertise in Fabry Disease

Last published:2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update

Published by:Niemann-Pick disease type C Guidelines Working Group 1

Last published:2017

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Published by:International expert panel on acid sphingomyelinase deficiency

Last published:2017

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