International guidelines

Rest of the world

Cipaglucosidase alfa for treating late onset Pompe disease​​[166]

Published by:National Institute for Health and Care Excellence

Last published:2023

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)​[169]

Published by:Orphanel Journal of Rare Diseases

Last published:2023

Pegunigalsidase alfa for treating Fabry disease​​[138]

Published by:National Institute for Health and Care Excellence

Last published:2023

Elosulfase alfa for treating mucopolysaccharidosis type 4A[177]

Published by:National Institute for Health and Care Excellence

Last published:2022

An expert consensus on practical recommendations and guidance for patients with classic Fabry disease[127]

Published by:Molecular Genetics and Metabolism

Last published:2022

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)[176]

Published by:American College of Medical Genetics

Last published:2020

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance​[158]

Published by:Orphanet Journal of Rare Diseases

Last published:2019

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients[126]

Published by:French Fabry Disease Working Group

Last published:2019

Fabry disease revisited: management and treatment recommendations for adult patients[68]

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

Last published:2018

Management goals for type 1 Gaucher disease: an expert consensus document from the European working group on Gaucher disease​​[117]

Published by:European working group on Gaucher disease

Last published:2018

Diagnosis and management of Gaucher disease in India - consensus guidelines[100]

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

Last published:2018

European expert consensus statement on therapeutic goals in Fabry disease[120]

Published by:European Fabry Disease Expert Group

Last published:2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update[54]

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

Last published:2017

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency[99]

Published by:International expert panel on acid sphingomyelinase deficiency

Last published:2017

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