Metabolic Disorders

Jul 28, 2020| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions

Fabry Disease and the Heart

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

Jul 24, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Hematologic Disorders, Metabolic Disorders

Paroxysmal Nocturnal Hemoglobinuria (PNH) Explained

Federico Grossi, MD, chief medical officer at Apellis…

Jul 16, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Kidney And Urinary Diseases, Metabolic Disorders

New Study Underway to Treat Propionic Acidemia and Methylmalonic Acidemia

Marshall Summar, MD, Division Chief, Genetics and Metabolism…

Jul 8, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Hematologic Disorders, Metabolic Disorders, News, Treatment

Data from Phase 3 Trial Shows Promise for Improved Treatment of PNH

Federico Grossi, MD, chief medical officer at Apellis…

Jul 6, 2020| Posted in: Cancers, Endocrine Disorders, Metabolic Disorders, Regulations, Treatment

New Oral Octreotide Approved to Treat Acromegaly

Susan Samson, MD, PhD, of Baylor College of…

Jun 23, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is a…

Jun 16, 2020| Posted in: Cancers, Endocrine Disorders, Metabolic Disorders

Acromegaly

Acromegaly is a rare endocrine disorder due to…

Jun 10, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Uncategorized

New Gene Therapy Clinical Trial for Fabry Disease

Bettina Cockcroft, MD, chief medical officer at Sangamo…

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…

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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