Associated Papers
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J et al.
Jimd Reports, 2015
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G et al.
Molecular Genetics and Metabolism, 0
Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.
Cornelius LP et al.
Annals of Indian Academy of Neurology, 0
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