Homocystinuria due to cystathionine beta-synthase deficiency
Dislocation of the optic lens, osteoporosis, thinning and lengthening of the long bones, intellectual disability, and thromboembolism are the most common
Jan. 28, 2020
Medical Director of Neurogenetics
Division of Neurology and Developmental Neuroscience
Department of Pediatrics
Baylor College of Medicine
Dr. Lisa Emrick of Baylor College of Medicine received a consulting fee from PTC Therapeutics.