Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
Cervera-Gaviria M et al.
Bmc Neurology, 2016
Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease.
Woś M et al.
Archives of Biochemistry and Biophysics, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
Piña-Aguilar RE et al.
Case Reports in Neurological Medicine, 2014
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M et al.
Plos One, 2013
Impaired dynamics of the late endosome/lysosome compartment in human Niemann-Pick type C skin fibroblasts carrying mutation in NPC1 gene.
Sztolsztener ME et al.
Molecular Biosystems, 2012
Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts.
Sztolsztener ME et al.
Archives of Biochemistry and Biophysics, 2010
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