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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

What Are the Signs and Symptoms of ASMD?

What Are the Signs and Symptoms of ASMD?

Pompe don’t lose time video

Pompe don’t lose time video

Gaucher disease awareness month video

Gaucher disease awareness month video

Gaucher

Gaucher

How To Diagnose LSDs?

How To Diagnose LSDs?

Learn more about early diagnosis of lysosomal storage disorders: Fabry disease, Pompe Disease, Gaucher disease, Acid Sphingomyelinase Deficiency (ASMD, also known as Niemann-Pick Type A/B), mucopolysaccharidoses (MPSs).

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.

Management of ASMD - Expert opinion: Professor Tawfeq Ben Omran

Management of ASMD - Expert opinion: Professor Tawfeq Ben Omran

Professor Tawfeq explains the benefits of the ERT Olipudase Alfa on patients diagnosed with ASMD.

Inspiration and innovation

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

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)

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

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

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 LOPD

Rare Diseases

Literature Analysis on LOPD Symptoms (Rheumatology)

Extraordinary measures: what are the benefits to have such movies talking about Rare Diseases?

Rare Diseases

Extraordinary measures: what are the benefits to have such movies talking about Rare Diseases?

Expert group consensus from the Arabian Peninsula on the diagnosis of LOPD

Rare Diseases

Literature Analysis on LOPD Symptoms (Pulmonology)

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