Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood

(2013) Hubertus C.M.T. Prinsen et al.   CLINICAL BIOCHEMISTRY

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

(2013) Paul Helquist et al.   Neurotherapeutics

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

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

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

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

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

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

(2010) Kyle B. Peake et al.   FEBS LETTERS

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

Identification of UDP Glycosyltransferase 3A1 as a UDPN-Acetylglucosaminyltransferase

(2008) Peter I. Mackenzie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY