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Neurology|October 1, 1993
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's diseaseM C Patterson, M Horowitz, R B Abel, et al.
The Journal of Biological Chemistry|November 25, 1992
Progesterone blocks cholesterol translocation from lysosomesJ D Butler, J Blanchette-Mackie, E Goldin, et al.
The Review of Scientific Instruments|November 29, 2014
Magnetic field measurements via visible spectroscopy on the Z machineM R Gomez, S B Hansen, K J Peterson, et al.
Mayo Clinic Proceedings|July 1, 1995
Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complexV E Torres, J Björnsson, B F King, et al.
Endocrinology|December 1, 1993
The murine Niemann-Pick type C lesion affects testosterone productionC F Roff, J F Strauss, E Goldin, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 1, 1993
Linkage of Niemann-Pick disease type C to human chromosome 18E D Carstea, M H Polymeropoulos, C C Parker, et al.
Neurology|January 1, 1993
The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type CM C Patterson, A M Di Bisceglie, J J Higgins, et al.
American Journal of Human Genetics|May 12, 2001
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1X Sun, D L Marks, W D Park, et al.
Molecular Genetics and Metabolism|August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort studyM Pineda, J E Wraith, E Mengel, et al.
Annals of Neurology|October 24, 1997
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's diseaseR Schiffmann, M P Heyes, J M Aerts, et al.
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