Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC
IJNS, Free Full-Text
IJNS, Free Full-Text
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale Academic OneFile
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale OneFile: Health and Medicine
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations, Hereditas
IJNS, Free Full-Text
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry
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