Metabolic Disorders

May 20, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases

Overview of the Mucopolysaccharidoses

Heather A. Lau, MD, Director, Lysosomal Storage Disease…

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 11, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Expert Perspectives, Gastrointestinal Diseases, Metabolic Disorders

Progressive Familial Intrahepatic Cholestasis (PFIC): A Diagnostic Odyssey

Shannon Palmatier has two sons with progressive familial…

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 7, 2020| Posted in: Cancers, Diagnosis, Hematologic Disorders, Lysosomal Storage Disorders, Metabolic Disorders, News, Treatment

Journal Watch: COVID-19, Neimann-Pick, Sickle Cell, Multiple Myeloma

CheckRare Journal Watch: COVID-19, Neimann-Pick, Sickle Cell, Multiple…

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)

Apr 30, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases, Uncategorized

Mucopolysaccharidosis type VII (Sly Syndrome)

Mucopolysaccharidosis type VII (MPS VII), also known as…

Apr 30, 2020| Posted in: Congenital And Genetic Conditions, Expert Perspectives, Heart Diseases, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions

Fabry Disease Overview

Ozlem Goker-Alpan, MD, founder of the Lysosomal &…

Apr 29, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions

Menkes Disease

Menkes disease is a disorder that affects copper levels…

Rare Disease Clinical Trials CME Program

Learn about clinical trials and rare diseases through these brief courses that are certified for CME and CNE credit.

Heather Lau, MD, MS, NYU School of Medicine, New York, NY
Morie A Gertz, MD, Mayo Clinic, Rochester, MN
Timothy Craig, DO, Penn State University, Hershey, PA
Eric T. Wong, MD, Harvard Medical School, Boston, MA

Metabolic Disorders

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