Associated Papers
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Bountouvi E et al.
Bmc Medical Genetics, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
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