Associated Papers
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
Las Heras M et al.
Npj Genomic Medicine, 2023
Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
Kılıç Yıldırım G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
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