Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
Por um escritor misterioso
Last updated 16 maio 2024
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery
Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice
IJNS, Free Full-Text
PDF) Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
IJNS, Free Full-Text
PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Niemann-Pick Type C 1 ( NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition - IOS Press
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