Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
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Descrição
A biomarker used to detect a rare neurodegenerative disorder of cholesterol metabolism, Niemann-Pick disease type C1 (NPC1), may also be useful for diagnosing another class of rare diseases known as congenital disorders of glycosylation (CDG), suggests a study by researchers at the National Institutes of Health.
Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery
Frontiers Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases
Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect
Frontiers GM1 Gangliosidosis—A Mini-Review
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
Niemann-Pick Disease, Type a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1, Biomarker Research
Do heterozygous mutations of Niemann–Pick type C predispose to late-onset neurodegeneration: a review of the literature
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment - Mengel - 2021 - Journal of Inherited
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library
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