THE study of lipoid distribution in derangements of lipoid metabolism may be expected to throw new light on the physiology of lipoid formation, transport and storage, just as the knowledge of carbohydrate metabolism is based to a great extent on the study of diabetes. At least three pathological entities ofgeneralised "lipoid storage " disease or lipoidoses have been distinguished from clinical...

The neurodegenerative disease Niemann-Pick Type C2 (NPC2) results from mutations in the NPC2 (HE1) gene that cause abnormally high cholesterol accumulation in cells. We find that purified NPC2, a secreted soluble protein, binds cholesterol specifically with a much higher affinity (K(d) = 30-50 nM) than previously reported. Genetic and biochemical studies identified single amino acid changes tha...

performance of the GM-CSF affinity column used to isolate antibodies. If used repeatedly, is it possible that a proportion of high affinity anti–GM-CSF AAs from PAP sera used as a positive control would be retained on the GM-CSF column and released slowly during subsequent purifications of HC IgG? If PAP anti–GMCSF IgG contamination did occur, not only would it account for the immunoblot data g...

Quantitative 3D Myocardial Perfusion Imaging at High Dose with Accurate Arterial Input Function Assessment Lukas Wissmann, Markus Niemann, Robert Manka, and Sebastian Kozerke Institute for Biomedical Engineering, University and ETH Zurich, Zurich, Switzerland, Department of Cardiology, University Hospital Zurich, Zurich, Switzerland, Division of Imaging Sciences & Biomedical Engineering, King's...

In this study, we report a 26-year-old female case of Niemann-Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma. She had mild inflammatory signs and also vertical ocular motility limitations.

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.