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

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

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

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 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

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C

(2012) Parvaneh Karimzadeh et al.   JOURNAL OF CHILD NEUROLOGY

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

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

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

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

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