Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

(2016) Mercedes Pineda et al.   BMC Pediatrics

Troubles psychiatriques dans la maladie de Niemann-Pick de type C chez l’adulte

(2016) A. Maubert et al.   ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

(2016) Frédéric Sedel et al.   JOURNAL OF NEUROLOGY

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

(2016) Marie T. Vanier et al.   MOLECULAR GENETICS AND METABOLISM

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

(2016) Xuntian Jiang et al.   Science Translational Medicine

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

(2016) Janine Reunert et al.   EBioMedicine

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

(2015) Jackie Imrie et al.   BMC Neurology

Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King’s College Hospital experience

(2015) Robert Hegarty et al.   EUROPEAN JOURNAL OF PEDIATRICS

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

(2015) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

(2015) Elizabeth A. Bowman et al.   JOURNAL OF NEUROLOGY

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

(2015) Larry A. Abel et al.   Orphanet Journal of Rare Diseases

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

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

Quality of medical care for persons with serious mental illness: A comprehensive review

(2015) Emma E. McGinty et al.   SCHIZOPHRENIA RESEARCH

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

(2014) Christian J. Hendriksz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

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

Psychiatric signs and symptoms in treatable inborn errors of metabolism

(2014) S. Nia   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

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

(2014) Olivier Bonnot 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

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

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

Young-Onset Dementia

(2013) Dulanji Kuruppu et al.   SEMINARS IN NEUROLOGY

A Clinical Approach to Early-Onset Inheritable Dementia

(2012) Brian S. Rogers et al.   American Journal of Alzheimers Disease and Other Dementias

Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us

(2012) Hans-Hermann Klünemann et al.   INTERNATIONAL JOURNAL OF PSYCHIATRY IN CLINICAL PRACTICE

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

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

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

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

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

Disease- and treatment-related effects on the pituitary–gonadal functional axis: a study in men with epilepsy

(2010) Jürgen Bauer et al.   JOURNAL OF 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

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

(2009) William S. Garver et al.   JOURNAL OF LIPID RESEARCH

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

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

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