Lysosomal Storage Disorders

Apr 14, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases

The Diagnostic Journey For MPS VII Patients

Deborah Marsden, MD, Global Medical Expert, Medical Affairs,…
Mar 22, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders

“Fabry Disease is Sneaky”: What Physicians Ought to Know

Dawn Laney, MS, CGC, CCRC, Assistant Professor, and…
Mar 18, 2021| Posted in: Lysosomal Storage Disorders, Regulations, Treatment

Why is Newborn Screening So Confusing?

Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of…
Mar 17, 2021| Posted in: Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

What is Metachromatic Leukodystrophy?

Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at…
Mar 16, 2021| Posted in: Congenital And Genetic Conditions, Heart Diseases, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

Pros and Cons of Newborn Screening for Fabry Disease

Dawn Laney, MS, CGC, CCRC, Assistant Professor, and…
Mar 12, 2021| Posted in: Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

New ERT for Pompe Disease As Effective as Older ERT

Priya Kishnani, MD, Professor of Pediatrics at the…
Mar 10, 2021| Posted in: Advocacy, Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

Two Tips to Better Manage Your Pompe Patient

Melanie McKay, mother of a young boy with…
Mar 10, 2021| Posted in: Drug Development, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Treatment

Stem Cell Gene Therapy Shows Promise for Metachromatic Leukodystrophy

Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at…
Mar 8, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Lysosomal Storage Disorders, Regulations

Advice for Geneticists Performing Newborn Screenings

Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of…
Mar 5, 2021| Posted in: Diagnosis, Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

The Benefits of Newborn Screening for Pompe Disease

Priya Kishnani, MD, Professor of Pediatrics at the…

CME Program: Gaucher Disease Highlights from WORLDSymposium 2020

Neal Weinreb, MD, FACP highlights the latest information about Gaucher disease from WORLDSymposium and provides expert analysis of its clinical relevance to help health care providers better care for patients with this rare disease.

CME Program: Fabry Disease Highlights from WORLDSymposium 2020

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

CME Program: Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium 2020

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

Lysosomal Storage Disorders

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