Overcoming Barriers to Clinical Adoption of NGS: Quality Coverage and Data Access

Lessons Learned from Newborn Screening for Pompe Disease and Mucopolysaccharidosis Type I

Propionic and Methylmalonic Acidemias: Defining Best Practices for Diagnosis and Treatment

Identifying, Assessing, and Treating Hypophosphatasia (HPP)

Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease

Targeting Pathogenic Mutations in the DNA Damage Response Pathway Genetic Testing and Counseling in the Era of Precision Medicine and Next-Generation Sequencing

Assessing the Potential Role of Emerging Therapies in the Early Diagnosis and Optimal Management of Chronic Visceral Acid Sphingomyelinase Deficiency