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

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

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

(2011) N. Dekker et al.   BLOOD

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

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease

(2011) Takashi Kodama et al.   PLoS One

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

Blood sphingolipidomics in healthy humans: impact of sample collection methodology

(2010) Samar M. Hammad et al.   JOURNAL OF LIPID RESEARCH

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

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

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

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

(2009) L. A. Abel et al.   NEUROLOGY

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA