Development of a bile acid-based newborn screen for Niemann-Pick disease type C
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Fostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsGenome sequencing in a case of Niemann-Pick type CDifferential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.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.Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-Β-Cyclodextrin.Consensus clinical management guidelines for Niemann-Pick disease type C.Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.Oxysterol Signatures Distinguish Age-Related Macular Degeneration from Physiologic Aging.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
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P2860
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
@en
Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
@nl
type
label
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
@en
Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
@nl
prefLabel
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
@en
Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
@nl
P2093
P2860
P1476
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
@en
P2093
Daniel S Ory
David E Scherrer
Dennis J Dietzen
Douglas F Covey
Elizabeth Berry-Kravis
Fong-Fu Hsu
Forbes D Porter
Heiko Runz
Janice Reunert
Jean E Schaffer
P2860
P304
P356
10.1126/SCITRANSLMED.AAF2326
P407
P577
2016-05-01T00:00:00Z