Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
about
Diagnostic workup and management of patients with suspected Niemann-Pick type C diseasePulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.Development of a bile acid-based newborn screen for Niemann-Pick disease type CRapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol ScreeningNiemann-Pick disease type C in the newborn period: a single-center experience.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.
P2860
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P2860
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
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
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@ast
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@en
type
label
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@ast
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@en
prefLabel
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@ast
Niemann-Pick Type C-2 Disease: ...... t into the Clinical Phenotype.
@en
P2093
P2860
P356
P1476
Niemann-Pick Type C-2 Disease: ...... ht into the Clinical Phenotype
@en
P2093
A B Burlina
A C Muntau
A P Burlina
A S Lotz-Havla
F Kannenberg
I Borggraefe
P2860
P356
10.1007/8904_2015_423
P50
P577
2015-03-13T00:00:00Z