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

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

(2015) Anne-Katrin Giese et al.   Orphanet Journal of Rare Diseases

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

(2015) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease

(2014) Sara Boenzi et al.   CLINICA CHIMICA ACTA

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

(2014) K. McKay Bounford et al.   JOURNAL OF NEUROLOGY

Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins

(2014) Alberto Benussi et al.   JOURNAL OF NEUROLOGY

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

(2014) Richard W. D. Welford et al.   PLoS One

Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study

(2013) David J. Kuter et al.   BLOOD CELLS MOLECULES AND DISEASES

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

(2013) P. Bauer et al.   HUMAN MOLECULAR GENETICS

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

(2013) James E. Wraith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

(2012) Ettore Salsano et al.   NEUROLOGICAL SCIENCES

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

(2012) F. A. Wijburg et al.   NEUROLOGY

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

(2012) Bénédicte Héron et al.   Orphanet Journal of Rare Diseases

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

(2012) Timothy M Cox et al.   Orphanet Journal of Rare Diseases

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

(2012) Mark Walterfang et al.   Orphanet Journal of Rare Diseases

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C

(2010) John V Campo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

(2010) Ed Wraith   Therapeutics and Clinical Risk Management

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

(2009) Sabine Sandu et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Cost of illness associated with Niemann-Pick disease type C in the UK

(2009) Jackie Imrie et al.   JOURNAL OF MEDICAL ECONOMICS

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY