Common hereditary lysosomal storage diseases - Guidelines

EUROPE

Migalastat for treating Fabry disease 

Published by: National Institute for Health and Care Excellence

Last published: 2017

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease 

Published by: Hunter Syndrome European Expert Council

Last published: 2011

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure 

Published by: European Consensus Panel

Last published: 2011

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease 

Published by: European Roundtable on the Haematological Aspects of Gaucher disease

Last published: 2007

INTERNATIONAL

Revised recommendations for the management of Gaucher disease in children 

Published by: European Journal of Pediatrics

Last published: 2013

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

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

Last published: 2012

Mucopolysaccharidosis I: management and treatment guidelines 

Published by: International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I

Last published: 2009

Management guidelines for mucopolysaccharidosis VI 

Published by: International Group of Experts in the Management of Patients with Mucopolysaccharidosis VI

Last published: 2007

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement 

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

Last published: 2006

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

Published by: International Collaborative Gaucher Group

Last published: 2004

Therapeutic goals in the treatment of Gaucher disease 

Published by: Seminars in Hematology

Last published: 2004

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy 

Published by: Annals of Internal Medicine

Last published: 2003

NORTH AMERICA

Consensus treatment recommendations for late-onset Pompe disease 

Published by: American Association of Neuromuscular and Electrodiagnostic Medicine

Last published: 2012

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

Published by: American College of Medical Genetics

Last published: 2011

Diagnosis and management of kidney involvement in Fabry disease 

Published by: National Kidney Foundation

Last published: 2006

Pompe disease diagnosis and management guideline 

Published by: ACMG Work Group on Management of Pompe Disease

Last published: 2006