Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

(2017) Benjamin Roeben et al.   JOURNAL OF MEDICAL GENETICS

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

(2017) Isabel De Castro-Orós et al.   Journal of Translational Medicine

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

(2017) Meral Topçu et al.   Molecular Diagnosis & Therapy

A post hoc study on gene panel analysis for the diagnosis of dystonia

(2017) Martje E. van Egmond et al.   MOVEMENT DISORDERS

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

(2016) Mercedes Pineda et al.   BMC Pediatrics

Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

(2016) G.S. Ribas et al.   CLINICA CHIMICA ACTA

High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease

(2016) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

(2016) Cecilia Marelli et al.   HUMAN MUTATION

Role of Niemann-Pick Type C Disease Mutations in Dementia

(2016) Chiara Cupidi et al.   JOURNAL OF ALZHEIMERS DISEASE

Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools

(2016) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Patients' perspectives on newborn screening for later-onset lysosomal storage diseases

(2016) Emily C. Lisi et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

(2016) Steven U. Walkley et al.   Orphanet Journal of Rare Diseases

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

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

(2015) Emily C. Lisi et al.   Journal of Genetic Counseling

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

(2015) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing

(2015) S.M. Herbst et al.   MOLECULAR AND CELLULAR PROBES

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann–Pick Type C disease among intellectually disabled using discrete event simulation

(2015) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Maladies neurométaboliques traitables associées aux troubles du spectre de la schizophrénie

(2015) Olivier Bonnot et al.   PRESSE MEDICALE

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges

(2014) Tom J de Koning et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Consanguinity and Prevalence Patterns of Inherited Disease in the UK Pakistani Community

(2014) Peter C. Corry   HUMAN HEREDITY

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

Psychiatric signs and symptoms in treatable inborn errors of metabolism

(2014) S. Nia   JOURNAL OF NEUROLOGY

Detection of Niemann-Pick type C mutations in infants with liver disease using targeted next generation sequencing

(2014) Kirsten E. McKay et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

(2014) Huiwen Zhang 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

Niemann-Pick type C disease: a novelNPC1mutation segregating in a Greek island

(2013) I. Mavridou et al.   CLINICAL GENETICS

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 is frequent in adult ataxia with cognitive decline and vertical gaze palsy

(2013) J. Schicks et al.   NEUROLOGY

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

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

(2013) Michael Zech et al.   PLoS One

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

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

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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

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

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

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

(2010) Marie T. Vanier et al.   CLINICAL GENETICS

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

(2010) Christopher K. Bruce et al.   HUMAN MUTATION

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

The epidemiology of progressive intellectual and neurological deterioration in childhood

(2009) C. Verity et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

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

Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

(2008) Anne Andermann   BULLETIN OF THE WORLD HEALTH ORGANIZATION