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

Towards a New Diagnostic Standard for Niemann–Pick C Disease

(2016) Xuntian Jiang et al.   EBioMedicine

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

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

(2015) Sonia Pajares et al.   JOURNAL OF LIPID RESEARCH

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

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

Key discoveries in bile acid chemistry and biology and their clinical applications: history of the last eight decades

(2014) Alan F. Hofmann et al.   JOURNAL OF LIPID RESEARCH

Fatty Acidomics: Global Analysis of Lipid Species Containing a Carboxyl Group with a Charge-Remote Fragmentation-Assisted Approach

(2013) Miao Wang et al.   ANALYTICAL CHEMISTRY

Identification and Quantitation of Fatty Acid Double Bond Positional Isomers: A Shotgun Lipidomics Approach Using Charge-Switch Derivatization

(2013) Kui Yang et al.   ANALYTICAL CHEMISTRY

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 disease type C clinical database: cognitive and coordination deficits are early disease indicators

(2013) Miriam Stampfer et al.   Orphanet Journal of Rare Diseases

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease

(2013) Masamitsu Maekawa et al.   STEROIDS

Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

(2012) Zeljka Korade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Genetic Screening

(2011) W. Burke et al.   EPIDEMIOLOGIC REVIEWS

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

(2011) Raymond Y Wang et al.   GENETICS IN MEDICINE

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

Newborn Screening of Lysosomal Storage Disorders

(2010) D. Marsden et al.   CLINICAL CHEMISTRY

Altered Bile Acid Metabolism in Childhood Functional Constipation: Inactivation of Secretory Bile Acids by Sulfation in a Subset of Patients

(2010) Alan F Hofmann et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

Dried Blood Spots as a Sample Collection Technique for the Determination of Pharmacokinetics in Clinical Studies: Considerations for the Validation of a Quantitative Bioanalytical Method

(2009) Neil Spooner et al.   ANALYTICAL CHEMISTRY

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

(2009) Benny Liu et al.   JOURNAL OF LIPID RESEARCH

Reference Ranges for Hematocrit and Blood Hemoglobin Concentration During the Neonatal Period: Data From a Multihospital Health Care System

(2009) J. Jopling et al.   PEDIATRICS

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

(2008) Jessie R. Zhang et al.   JOURNAL OF CLINICAL INVESTIGATION