Consensus clinical management guidelines for Niemann-Pick disease type C
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 …
Miglustat in Niemann-Pick disease type C patients: a review
M Pineda, M Walterfang, MC Patterson - Orphanet journal of rare diseases, 2018 - Springer
Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …
neurodegenerative disease associated with a wide variety of progressive neurological …
Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
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) …
Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
T Kirkegaard, J Gray, DA Priestman… - Science translational …, 2016 - science.org
Lysosomal storage diseases (LSDs) often manifest with severe systemic and central
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …
Disease and patient characteristics in NP-C patients: findings from an international disease registry
MC Patterson, E Mengel, FA Wijburg, A Muller… - Orphanet journal of rare …, 2013 - Springer
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease
characterized by progressive neurodegeneration and premature death. We report data …
characterized by progressive neurodegeneration and premature death. We report data …
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 …
Central ocular motor disorders, including gaze palsy and nystagmus
M Strupp, O Kremmyda, C Adamczyk, N Böttcher… - Journal of …, 2014 - Springer
An impairment of eye movements, or nystagmus, is seen in many diseases of the central
nervous system, in particular those affecting the brainstem and cerebellum, as well as in …
nervous system, in particular those affecting the brainstem and cerebellum, as well as in …
Miglustat: a review of its use in Niemann-Pick disease type C
KA Lyseng-Williamson - Drugs, 2014 - Springer
Abstract Miglustat (Zavesca®, Brazaves®), a small iminosugar molecule that reversibly
inhibits glycosphingolipid synthesis, is the only disease-specific drug approved for the …
inhibits glycosphingolipid synthesis, is the only disease-specific drug approved for the …
“Atypical” atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system …
Recently, a number of genetic parkinsonian conditions have been recognized that share
some features with the clinical syndromes of progressive supranuclear palsy (PSP) …
some features with the clinical syndromes of progressive supranuclear palsy (PSP) …
The neuropsychiatry of inborn errors of metabolism
A number of metabolic disorders that affect the central nervous system can present in
childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such …
childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such …