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Clinical Protocols

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)
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