Clinical Protocols
02-CH-0311 | Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders |
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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) |