Все публикации

Treating Primary Immunodeficiency

New Treatments in Development for Fabry Disease

The Pathophysiology of Galactosemia

CTCL: Challenges of Treating People of Color (Chapter 1)

Clinical Trial Update: Mavodelpar To Treat Primary Mitochondrial Myopathies (STRIDE Study)

The Difference Between a Geneticist and a Genetic Counselor

Primary Mitochondrial Myopathy Explained

Current Treatment Options for Children with Gaucher Disease Type 2

Rett Syndrome Research at the NINDS

Rett Syndrome and the National Institute of Neurological Disorder and Stroke (NINDS)

What is Alpha Mannosidosis

What Are Chronic Neutropenic Disorders?

Bernie Williams and the Power of Music to Help Patients with Rare Lung Disorders

Reducing Barriers to Participate in Clinical Trials

CTCL: Criteria to Diagnose, Counsel Patients, and Work-Up for Early-stage Mycosis Fungoides

Counseling Patients With T-Cell Dyscrasias (Chapter 2)

Criteria to Diagnose Mycosis Fungoides (Chapter 1)

Work Up for Early Stage Mycosis Fungoides (Chapter 3)

Baseball Legend Bernie Williams Discusses Interstitial Lung Diseases

Using siRNA to Treat Charcot-Marie-Tooth Disease Type 1A

Patient with HoFH Describes His Diagnostic Journey

Long Term Efficacy of Enzyme Replacement Therapy (ERT) in Gaucher Disease Type 1 and Type 3

Treating Gaucher Disease Type 3: A History Lesson

Gaucher Disease Type 1, Type 2, and Type 3 Explained