Metabolic Disorders

Jun 11, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Hematologic Disorders, Metabolic Disorders, News, Treatment

FDA Approves Expanded Access of PNH Drug to Include Younger Patients

The U.S. Food and Drug Administration (FDA) has…
Jun 8, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

Diagnostic Journey for Little Boy with Niemann-Pick Disease Type C (NPC)

Meghann Ferguson, Director-at-Large at the National Niemann-Pick Disease…
May 18, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Kidney And Urinary Diseases, Metabolic Disorders

Diagnosing Primary Hyperoxaluria Type 1 (PH1)

Pritesh J. Gandhi, PharmD, Former Vice President and…
May 6, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Gastrointestinal Diseases, Kidney And Urinary Diseases, Metabolic Disorders

Study Results Demonstrate Favourable Efficacy and Safety of Lumasiran for PH1

Pritesh J. Gandhi, PharmD, Former Vice President and…
Apr 22, 2021| Posted in: Cancers, Diagnosis, Endocrine Disorders, Metabolic Disorders

Acromegaly and the Dentist

Susan Samson, MD, PhD, of the Mayo Clinic…
Apr 19, 2021| Posted in: Congenital And Genetic Conditions, Metabolic Disorders

Potential Connection Between MPS VII Survival and NIHF

Deborah Marsden, MD, Global Medical Affairs Lead at…
Apr 15, 2021| Posted in: Cancers, Drug Development, Endocrine Disorders, Metabolic Disorders

ENDO 2021: Update on Open-label Acromegaly Trial with Oral Octreotide

Susan Samson, MD, PhD, of the Mayo Clinic…
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,…
Apr 9, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases

What is Sly Syndrome

Deborah Marsden, MD, Global Medical Affairs Lead at…
Apr 7, 2021| Posted in: Cancers, Diagnosis, Endocrine Disorders, Metabolic Disorders

Diagnosing 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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