Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC
Very Late‐Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look‐Alike Disorder - Kresojević - 2020 - Movement Disorders Clinical Practice - Wiley Online Library
Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale Academic OneFile
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - ScienceDirect
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities - Gustavo H.B. Maegawa, 2019
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
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
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine
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Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
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