Associated Papers
Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
Bulut FD et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Topçu M et al.
Molecular Diagnosis & Therapy, 2017
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