02-CH-0311 |
Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders |
06-CH-0186 |
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C |
000414-CH |
Pilot Study of an Optic-to-Audio Device in a Pediatric Cohort with CLN3-related Conditions or Low Vision |
18-CH-0002 |
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis |
000487-CH |
Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism |
17-CH-0020 |
Observational Study of Males with Creatine Transporter Deficiency (CTD) |