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 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…
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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