Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening
about
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Consensus clinical management guidelines for Niemann-Pick disease type C.Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.Miglustat in Niemann-Pick disease type C patients: a review
P2860
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P2860
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Rapid Diagnosis of 83 Patients ...... rs by Cholestantriol Screening
@en
type
label
Rapid Diagnosis of 83 Patients ...... rs by Cholestantriol Screening
@en
prefLabel
Rapid Diagnosis of 83 Patients ...... rs by Cholestantriol Screening
@en
P2093
P2860
P1433
P1476
Rapid Diagnosis of 83 Patients ...... rs by Cholestantriol Screening
@en
P2093
Frank Kannenberg
Ingrid Du Chesne
Janine Reunert
Judith Wellhausen
Manfred Fobker
Maria Plate
Stephan Rust
Thorsten Marquardt
P2860
P304
P356
10.1016/J.EBIOM.2015.12.018
P577
2015-12-22T00:00:00Z