Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
MC Patterson, CJ Hendriksz, M Walterfang… - Molecular genetics and …, 2012 - Elsevier
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: a large retrospective observational study
MC Patterson, WS Garver, R Giugliani… - Journal of Inherited …, 2020 - Wiley Online Library
Miglustat has been indicated for the treatment of Niemann‐Pick disease type C (NP‐C)
since 2009. The aim of this observational study was to assess the effect of miglustat on long …
since 2009. The aim of this observational study was to assess the effect of miglustat on long …
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
JE Wraith, N Guffon, M Rohrbach, WL Hwu… - Molecular genetics and …, 2009 - Elsevier
Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by
progressive neurological deterioration. However, data on the progression of neurological …
progressive neurological deterioration. However, data on the progression of neurological …
Recommendations on the diagnosis and management of Niemann-Pick disease type C
JE Wraith, MR Baumgartner, B Bembi… - Molecular genetics and …, 2009 - Elsevier
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in …
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in …
Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study
P Bauer, DJ Balding, HH Klünemann… - Human molecular …, 2013 - academic.oup.com
Niemann–Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive
neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the …
neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the …
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami… - Orphanet journal of rare …, 2018 - Springer
Abstract 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 …
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
J Imrie, L Heptinstall, S Knight, K Strong - BMC neurology, 2015 - Springer
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lipid
storage disorder characterised by progressive, disabling neurological symptoms and …
storage disorder characterised by progressive, disabling neurological symptoms and …
Niemann-Pick disease type C symptomatology: an expert-based clinical description
E Mengel, HH Klünemann, CM Lourenço… - Orphanet journal of rare …, 2013 - Springer
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to
disabling neurological manifestations and premature death. The estimated disease …
disabling neurological manifestations and premature death. The estimated disease …
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
MC Patterson, E Mengel, MT Vanier… - Orphanet journal of rare …, 2020 - Springer
Abstract Background Niemann-Pick disease Type C (NP-C) is a rare, progressive
neurodegenerative disorder characterized by progressive neurodegeneration and …
neurodegenerative disorder characterized by progressive neurodegeneration and …
Niemann–Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on …
G Millat, N Baïlo, S Molinero, C Rodriguez… - Molecular genetics and …, 2005 - Elsevier
Niemann–Pick disease type C (NPC), a neurovisceral disorder characterized by
accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal …
accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal …
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