Metabolic Disorders

Jan 18, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

Diagnosing Niemann-Pick Type C

Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular…
Jan 15, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

Overview of Niemann-Pick Type C

Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular…
Jan 12, 2021| Posted in: Congenital And Genetic Conditions, Heart Diseases, Hematologic Disorders, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions, Treatment

Determining the Best Treatment Option for Fabry Disease

Robert Hopkin, MD, Associate Professor of Clinical Pediatrics…
Jan 11, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Drug Development, Metabolic Disorders, News

Podcast: Clinical Data Shows Promise for SCID Treatment

Judy Shizuru, MD, Blood and Marrow Transplant Specialist,…
Jan 10, 2021| Posted in: Cancers, Diagnosis, Endocrine Disorders, Metabolic Disorders, Musculoskeletal Diseases

Acromegaly and Pituitary Tumors

Lisa Nachtigall, MD, Clinical Director, Neuroendocrine and Pituitary…
Jan 8, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Metabolic Disorders

Overview of SCID

Judy Shizuru, MD, Blood and Marrow Transplant Specialist,…
Jan 8, 2021| 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

Overview of Fabry Disease

Robert Hopkin, MD, Associate Professor of Clinical Pediatrics…
Jan 5, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Neurology/Nervous System Diseases

Adult-Onset Niemann-Pick Disease: A Diagnostic Journey

Cara Gilmore, a patient with adult onset Niemann-Pick…
Jan 4, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Skin Conditions, Treatment

Orphan Drugs Currently Under Review by the FDA

Every potential Food and Drug Administration (FDA) approval…
Dec 22, 2020| Posted in: Cancers, Congenital And Genetic Conditions, Endocrine Disorders, Metabolic Disorders, Musculoskeletal Diseases, Treatment

Treatment Options for Acromegaly

Roberto Salvatori, MD, Medical Director, Johns Hopkins Pituitary…

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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