The course is part of the Excellence in Pediatrics Institute's Peer2 Peer Education Program to train frontline healthcare professionals to detect, diagnose and refer children with serious conditions as early as possible. The program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.  

The course focuses on Metabolic Disorders covering Lysosomal Storage Disorders, with a focus on Fabry, Gaucher and MPS diseases. Learning Objectives: (1) Learn when Common Complaints are the Signs of Lysosomal Storage Diseases  (2) Learn the Pediatrician’s Role in Identifying Gaucher Disease (3) Learn the Physician's role in Identifying Fabry Disease (4) Learn the Pediatrician’s Role in Identifying MPS Diseases

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  • Online Sessions

    ONLINE SESSION RHE-S1: Avoiding Misdiagnosis. Clinical Manifestations of Inherited Metabolic Disorders for Pediatric Rheumatologists and General Pediatricians

    ♦︎ Date: Wednesday, Oct 10, 2018 ♦︎ Time: 1:00 PM - 2:00 PM Central European Summer Time ♦︎ Language: English  ♦︎ Presenter:  ROLANDO CIMAZ, Professor, Head, Meyer Pediatric Hospital, Florence, Department of Health Sciences for Women and Children. ITALY ♦︎ Learning Objectives:  (1) Understand how metabolic disease may present to a rheumatologist (2) Review the main musculoskeletal signs of mucopolysaccharidosis (3) Consider the signs and symptoms which should raise a suspicion in the differential diagnosis of JIA
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    ONLINE SESSION END-S3: Avoiding Misdiagnosis - Clinical Manifestations of Lysosomal Storage Disorders for Pediatric Endocrinologists and General Pediatricians

    ♦︎ Date: Thursday, Oct 18, 2018 ♦︎ Time: 1:00 PM - 2:00 PM Central European Summer Time ♦︎ Language: English ♦︎ Presenter: NATALIA BELOVA, Pediatric Endocrinologist and Clinical Geneticist, RUSSIA ♦︎ Learning Objectives: (1) Understand how metabolic disease may present to a paediatric endocrinologist (2) Review the main endocrine signs of mucopolysaccharidosis and other metabolic disorders (3) Consider the signs and symptoms which should raise a suspicion in the differential diagnosis to common endocrine condition
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  • Online Sessions

    WATCH THE WEBINAR VIDEO: When to Suspect Juvenile Idiopathic Arthritis & How to Recognise Conditions Resembling JIA

    Session Format: Online Webinar. Language: English. Registration: FreePresenter: Athimalaipet Ramanan, Consultant Paediatric Rheumatologist Bristol Royal Hospital for Children & Royal National Hospital for Rheumatic Diseases, Bath, and Professor of Paediatric Rheumatology, University of Bristol, UK (Presenter's Biography) Register here and directly Watch the video. It's free
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    WATCH THE WEBINAR VIDEO: Spot the Early Signs of Mucopolysaccharidoses - One Disease with Many Faces

    Session Format: Online Webinar. Language: English. Registration: FreeΡresenter: Susanne Kircher, Ao.Univ. Prof. DDr. MBA, LSD, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria. (Presenter's Biography) Register here and directly Watch the video. It's free
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  • Online Sessions

    What Fabry Disease is

    A video to help you better understand of the signs and symptoms of Fabry disease, how to identify the key diagnostic features of Fabry disease, and the complexities and differences between males and females.
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    Anisa’s Story

    Anisa is a young girl from Canada living with Mucopolysaccharidosis (MPS) Type I. Anisa and her mother, Jen, share their story from Anisa’s first symptoms to her diagnosis just after her first birthday – and a life filled with playing dress up, dance, and hide and seek. 
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