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Rare Diseases

Get a global overview and learn all about changing world of Rare diseases

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Science in Rare Diseases

Get a 360º view and stay updated on Rare diseases with content selected for you

Every Moment Matters: Navigating Diagnosis of Fabry Disease

Every Moment Matters: Navigating Diagnosis of Fabry Disease

Gaucher

Gaucher

Navigating the Pompe Disease Journey

Navigating the Pompe Disease Journey

Recognizing Key Signs and Symptoms Along the Way

Better care for Fabry

Better care for Fabry

Every Moment Matters on the Fabry Journey

Pompe Care Podcast Series

Pompe Care Podcast Series

Welcome to Pompe Care podcast series, today’s episodes we speak to Dr. Amal Al Teneiji, Metabolic Genetics Consultant at Sheikh Khalifa Medical City Abu Dhabi, about Pompe disease. We talk about typical diagnosis of patient journey, challenges facing, new diagnostic technologies, effective ways to support patients and families and social stigma.

How To Diagnose LSDs?

How To Diagnose LSDs?

Consensus Guidelines for the Clinical Management of ASMD

Consensus Guidelines for the Clinical Management of ASMD

Impact of symptoms and risk of ASMD on patients and caregivers

Impact of symptoms and risk of ASMD on patients and caregivers

Inspiration and innovation

Get inspired and stay at the forefront of innovation with the following resources

Differential Diagnosis Of Late Onset Pompe Disease (LOPD) and Myotonic Dystrophy Type 1 Through Abdominal Ultrasonography

Rare Diseases

Differential Diagnosis Of Late Onset Pompe Disease (LOPD) and Myotonic Dystrophy Type 1 Through Abdominal Ultrasonography

Diagnostic Algorithm for Gaucher Disease in Adult

Rare Diseases

Diagnostic Algorithm for Gaucher Disease in Adult

Bone Monitoring Guidelines in Gaucher Disease Video

Rare Diseases

Bone Monitoring Guidelines in Gaucher Disease Video

Diagnostic Algorithm for Gaucher Disease in Pediatric

Rare Diseases

Diagnostic Algorithm for Gaucher Disease in Pediatric

Prevalence Of LOPD In Patients With Undifferentiated Proximal Myopathy And Undiagnosed Muscle Biopsy

Rare Diseases

Prevalence Of LOPD In Patients With Undifferentiated Proximal Myopathy And Undiagnosed Muscle Biopsy

Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease for orthopedists

Rare Diseases

Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease for orthopedists

Experts recommendations on Late Onset Pompe Disease (LOPD) differential diagnosis from GCC

Rare Diseases

Experts recommendations on Late Onset Pompe Disease (LOPD) differential diagnosis from GCC

Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease (LOPD)

Rare Diseases

Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease (LOPD)

Events

Stay up to date and register for the latest events and view webinar recordings.

Do not Keep it masked! Prof. Fatih Ezgü

Do not Keep it masked! Prof. Fatih Ezgü

Introduction to Gaucher Disease by Prof. Moeenaldeen D. Alsayed

Introduction to Gaucher Disease by Prof. Moeenaldeen D. Alsayed

ASMD: Overview And Clinical Cases - by Prof. Roberto Giugliani

ASMD: Overview And Clinical Cases - by Prof. Roberto Giugliani

Dr. Rana Felemban lecture on MPS disease

Dr. Rana Felemban lecture on MPS disease

Prof. Christina Lampe lecture on MPSI disease

Prof. Christina Lampe lecture on MPSI disease