Cargando…

Consensus clinical management guidelines for Niemann-Pick disease type C

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889539/ https://www.ncbi.nlm.nih.gov/pubmed/29625568 http://dx.doi.org/10.1186/s13023-018-0785-7

Ejemplares similares

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
por: Bolton, Shaun C., et al.
Publicado: (2022)

Niemann-Pick disease type C symptomatology: an expert-based clinical description
por: Mengel, Eugen, et al.
Publicado: (2013)

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
por: Patterson, Marc C., et al.
Publicado: (2017)

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
por: Geberhiwot, Tarekegn, et al.
Publicado: (2023)

Niemann-Pick disease type C
por: Vanier, Marie T
Publicado: (2010)

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
por: Stampfer, Miriam, et al.
Publicado: (2013)

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study
por: Patterson, Marc C., et al.
Publicado: (2020)

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
por: Zampieri, Stefania, et al.
Publicado: (2014)

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease
por: Colaco, Alexandria, et al.
Publicado: (2019)

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
por: Wraith, James E., et al.
Publicado: (2013)

Miglustat in Niemann-Pick disease type C patients: a review
por: Pineda, Mercè, et al.
Publicado: (2018)

Genetic and laboratory diagnostic approach in Niemann Pick disease type C
por: McKay Bounford, K., et al.
Publicado: (2014)

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
por: Dardis, A., et al.
Publicado: (2016)

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin
por: Bergamin, Natascha, et al.
Publicado: (2013)

Cognitive impairment profile in adult patients with Niemann pick type C disease
por: Heitz, Camille, et al.
Publicado: (2017)

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
por: Walterfang, Mark, et al.
Publicado: (2012)

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
por: Zech, Michael, et al.
Publicado: (2013)

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
por: Patterson, Marc C., et al.
Publicado: (2020)

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
por: Pineda, Mercedes, et al.
Publicado: (2016)

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
por: Sobrido, María-Jesús, et al.
Publicado: (2019)

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C
por: Bremova-Ertl, Tatiana, et al.
Publicado: (2021)

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
por: Seker Yilmaz, Berna, et al.
Publicado: (2020)

Towards a New Diagnostic Standard for Niemann–Pick C Disease
por: Jiang, Xuntian, et al.
Publicado: (2016)

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
por: Nadjar, Yann, et al.
Publicado: (2018)

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
por: Mengel, Eugen, et al.
Publicado: (2020)

Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment
por: Evans, William R. H., et al.
Publicado: (2017)

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
por: Héron, Bénédicte, et al.
Publicado: (2012)

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
por: Mengel, Eugen, et al.
Publicado: (2021)

Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease
por: Davidson, Cristin D., et al.
Publicado: (2016)

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
por: Davidson, Cristin D., et al.
Publicado: (2009)

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
por: Patterson, Marc C, et al.
Publicado: (2015)

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
por: Abel, Larry A., et al.
Publicado: (2015)

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
por: Bremova‐Ertl, Tatiana, et al.
Publicado: (2021)

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
por: Wraith, James E, et al.
Publicado: (2009)

Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study
por: Bauer, Peter, et al.
Publicado: (2013)

Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph
por: El-Masri, Shaddy, et al.
Publicado: (2022)

Stem Cells and Niemann Pick Disease
por: Andolina, Marino
Publicado: (2014)

Stem Cells in Niemann-Pick Disease
por: Kim, Sun-Jung, et al.
Publicado: (2008)

Niemann-Pick disease and platelet dysfunction
Publicado: (2012)

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
por: Patterson, Marc C., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_jdhn87qt6e6kg0vdd35rm5s2s4