POMPE

RARE-DISEASE

Diagnostic challenges of LOPD

GAUCHER

Diagnostic Algorithm for Gaucher Disease in Pediatric

Diagnostic Algorithm for Gaucher Disease in Adult

Bone Monitoring Guidelines in Gaucher Disease Video

FABRY

Better care for Fabry

Every Moment Matters on the Fabry Journey

ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

ASMD Phenotypes

This video summarizes the phenotypes of Acid sphingomyelinase deficiency genetic Disease (ASMD). Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin.

EPILEPSY

NEUROLOGY

How is LSDs prevalence & epidemiology different in our region?

Summary of the Presentation:&nbsp;
Prof. Majid Aldadhal speaks about how we can anticipate lysosomal storage diseases to have higher prevalence in our region.

Short Biography of the speaker:
Prof. Majid Alfadhel (KSA)
Deputy Executive of King Abdullah International Medical Research Centre (KAIMRC).
Head of Genetics Division, Department of Pediatrics at King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
Professor at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS).
Director of medical genomic research laboratory at KAIMRC and Editor in chief of journal of Biochemical and Clinical Genetics.

Have you considered Pompe Disease?

Pompe Disease is a treatable neuromascular disease but when to suspect it. To know, watch this video.

Fabry Disease from Cardiology Perspective

In&nbsp;this video, Dr. Tamer Ghazy is sharing some data and highlights about the cardiovascular complications in Fabry disease.

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The ADCT gives a measure of how controlled the eczema is. Answer these 6 simple questions with your patient to find the ADCT score. It will indicate proper course of action.

Atopic dermatitis, a type of eczema, may be affecting your Patient's life in more ways than you know.

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