A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Pitfalls Associated with the Use of Liquid Chromatography-Tandem Mass Spectrometry in the Clinical Laboratory

(2010) M. Vogeser et al.   CLINICAL CHEMISTRY

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

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

(2009) S. L. Sturley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Are liquid chromatography/electrospray tandem quadrupole fragmentation ratios unequivocal confirmation criteria?

(2009) Anton Kaufmann et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

(2008) Stefania Zampieri et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Validation of a gas chromatography–mass spectrometry method for the analysis of sterol oxidation products in serum

(2008) María Menéndez-Carreño et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES