Latest Summaries

This CME activity highlights the latest information about Gaucher disease and provides expert analysis of its clinical relevance.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.

Drs. Goker-Alpan and Zimran provide an overview of current and emerging therapies for lysosomal storage diseases in this CME program.

Michael Levy, MD, PhD and Prem Subramanian, MD, PhD highlight the important role ophthalmologists and neurologists play in diagnosing and treating NMOSD most efficiently.

Richard N Channick, MD highlights new information and data regarding pulmonary arterial hypertension (PAH) to assist in the diagnosis and management of patients with this rare disease.

This CME activity highlights the latest information about Fabry disease from WORLDSymposium 2021.

Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake.

Peter Tebben, MD discusses tumor-induced osteomalacia (TIO), a rare paraneoplastic condition commonly characterized by bone pain, muscle weakness and fractures. 

Peter Tebben, MD discusses tumor-induced osteomalacia (TIO), a rare paraneoplastic condition commonly characterized by bone pain, muscle weakness and fractures. 

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

Drs. Goker-Alpan and Zimran provide an overview of current and emerging therapies for lysosomal storage diseases in this CME program.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

This CME activity highlights the latest information about Gaucher disease and provides expert analysis of its clinical relevance.

This CME activity highlights the latest information about Fabry disease from WORLDSymposium 2021.

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

Richard N Channick, MD highlightsnew information and data regarding pulmonary arterial hypertension (PAH) to assist in the diagnosis and management of patients with this rare disease.

Michael Levy, MD, PhD and Prem Subramanian, MD, PhD highlight the important role ophthalmologists and neurologists play in diagnosing and treating NMOSD most efficiently.

Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake.

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.