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February 2024
Understand the path to the successful early referral and diagnosis of suspected Alpha-mannosidosis in Children
Build Your Knowledge with 6 Expert-Led Free Webinars
Alpha-mannosidosis is an ultra-rare genetic disorder caused by a deficiency of the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of alpha-mannosidosis vary widely between individuals, making diagnosis challenging and often delayed. Minimising the time to diagnosis is important in ensuring that individuals with alpha-mannosidosis and their families receive timely access to support and specialist MDT care.

 
WATCH
Metachromatic Leukodystrophy:
Minimising Delays in Diagnosis and Referral of Patients

Early-onset symptoms can often be confused with those of other conditions, leading to misdiagnosis, incorrect referrals, and delays in treatment.

Access 10 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.



 
Upcoming Meeting
17th International Symposium on MPS and Related Diseases (04 - 07 April 2024)
 
This congress is a unique platform where doctors, patients, families, scientists, and industry professionals come together to engage in intensive exchange. Four days full of numerous scientific lectures, a wide range of family activities, and a lively children's and youth program.


 
Interesting Reading
Orphanet Journal of Rare Diseases 
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centres
The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation.
 
READ ARTICLE
54 Expert-Led Free Webinars
What Every Paediatrician Needs to Know about the Aplha-mannosidosis Patient’s Journey

30-minute webinar delivered by Dr Christina Lampe (University Hospital of Giessen, Germany)
The Importance of Spotting the Early Signs of Mucopolysaccharidosis (MPS) - Established & Emerging Treatments

30-minute webinar delivered by Dr Raymond Y. Wang (Children's Hospital, California)
 
54 Expert-Led Free Webinars
The Role of Microglia - The Latest Research and the Implications for Patients with Metachromatic Leukodystrophy (MLD)

30-minute webinar delivered by Dr Alessandra Biffi (Harvard Medical School)
Shine a Light on Alpha-mannosidosis: Spotting The Signs

60-minute webinar delivered by Dr Christina Lampe (Hospital of Giessen, Germany), Dr Karolina Stepien Salford Royal NHS, UK) and Dr Can Ficicioglu (University of Pennsylvania, US)
 
HOW TO GET INVOLVED
Visit the Metachromatic Leukodystrophy (MLD) Resource Center Visit the Metachromatic Leukodystrophy (MLD) Resource Center
Visit the Alpha-mannosidosis (AM) Resource Center Visit the Alpha-mannosidosis (AM) Resource Center
Visit the Mucopolysaccharidosis (MPS) Resource Center Visit the Mucopolysaccharidosis (MPS) Resource Center
Email us to become educator or suggest a disease to expand the program Email us to become educator or suggest a disease to expand the program
Association Excellence in Pediatrics Institute
Contact Phone: +41 43 21 55 937
Email: [email protected]
Address: Rue des Vignerons 1B, 1110 Morges 1 (VD), Switzerland
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