Directrices internacionales

Reino Unido

Cipaglucosidase alfa for treating late onset Pompe disease

Publicado por:National Institute for Health and Care Excellence

Publicado por última vez:2023

Pegunigalsidase alfa for treating Fabry disease

Publicado por:National Institute for Health and Care Excellence

Publicado por última vez:2023

Elosulfase alfa for treating mucopolysaccharidosis type 4A

Publicado por:National Institute for Health and Care Excellence

Publicado por última vez:2022

Europa

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

Publicado por:French Fabry Disease Working Group

Publicado por última vez:2019

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

Publicado por:European working group on Gaucher disease

Publicado por última vez:2018

European expert consensus statement on therapeutic goals in Fabry disease

Publicado por:European Fabry Disease Expert Group

Publicado por última vez:2018

América del Norte

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

Publicado por:American College of Medical Genetics

Publicado por última vez:2020

Asia

Diagnosis and management of Gaucher disease in India - consensus guidelines

Publicado por:Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Publicado por última vez:2018

Resto del mundo

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

Publicado por:Orphanel Journal of Rare Diseases

Publicado por última vez:2023

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

Publicado por:Molecular Genetics and Metabolism

Publicado por última vez:2022

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

Publicado por:Orphanet Journal of Rare Diseases

Publicado por última vez:2019

Fabry disease revisited: management and treatment recommendations for adult patients

Publicado por:International Panel of Physicians with Expertise in Fabry Disease

Publicado por última vez:2018

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

Publicado por:Niemann-Pick disease type C Guidelines Working Group 1

Publicado por última vez:2017

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Publicado por:International expert panel on acid sphingomyelinase deficiency

Publicado por última vez:2017

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