Endocrine Disorders

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.

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

In this CME program, Drs. Shoshana Revel-Vilk and Neil Joseph Weinreb discuss novel technologies and mmerging therapies for precision medicine.

In this CME activity, Drs. Ozlem Goker-Alpan, Gregory Grabowski, and Soumeya Bekri discuss clinical diversity and genetic variation in lysosomal disorders.

In this CME program, Drs. Ari Zimran, Gustavo Maegawa, and Nina Raben, MD discuss preclinical studies and clinical trials regarding individualized therapies.

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