Neurology/Nervous System Diseases

May 15, 2020| Posted in: Congenital And Genetic Conditions, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions

Fabry Disease Research Highlights: Earn CME/CNE Credit

Ozlem Goker-Alpan, MD, provides a summary of research…

May 14, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Expert Perspectives, Neurology/Nervous System Diseases, News, Treatment

Prader-Willi Syndrome: Phase 2 Clinical Trial Results With Tesomet

Rami Levin, CEO of Saniona, a pharmaceutical company…

May 13, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Neurology/Nervous System Diseases

AMO Pharma’s Pipeline: CMD, Phelan-McDermid, and Rett Syndrome

Michael Snape, PhD, Chief Scientific Officer at AMO…

May 9, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Expert Perspectives, Heart Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Treatment

Podcast: Diagnosing Gaucher Disease Before the ERT Era

Cyndi Frank, of the Gaucher Community Alliance explains…

May 8, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Treatment

Positive Phase 2 Data With GABA-A Agonist to Treat Fragile X Syndrome

Ovid Pharmaceutics has announced their novel delta (δ)-selective…

May 5, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Neurology/Nervous System Diseases

Angleman Syndrome Explained

Angelman syndrome is a rare genetic disorder affecting…

May 4, 2020| Posted in: Musculoskeletal Diseases, Neurology/Nervous System Diseases

Lambert-Eaton Myasthenic Syndrome

Overview Lambert Eaton myasthenic syndrome is a disorder…

May 3, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Uncategorized

Sanfilippo Syndrome (Mucopolysaccharidosis III)

Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome…

May 2, 2020| Posted in: Congenital And Genetic Conditions, Gastrointestinal Diseases, Kidney And Urinary Diseases, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders)

May 2, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Kidney And Urinary Diseases, Neurology/Nervous System Diseases

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a disorder that involves…

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.

Neurology/Nervous System Diseases

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