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Human Genetics|September 1, 1993
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage diseaseV Bradová, F Smíd, B Ulrich-Bott, et al.Oncogene|October 20, 2001
The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cellsC Burek, J Roth, H G Koch, et al.Molecular Genetics and Metabolism|August 5, 2000
Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation groupH Christomanou, M T Vanier, P Santambrogio, et al.AJNR. American Journal of Neuroradiology|March 7, 2008
Hyperecho-turbo spin-echo sequences at 3T: clinical application in neuroradiologyR H Tetzlaff, I Mader, W Küker, et al.Biological Chemistry Hoppe-Seyler|January 1, 1994
Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast linesB C Paton, H R Schneider-Jakob, J Kopitz, et al.Journal of the Neurological Sciences|December 1, 1995
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cellsT Levade, H W Moser, A H Fensom, et al.Neuropediatrics|February 1, 1996
Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe diseaseF Gullotta, J L Hughes, W Wittkowski, et al.Neuropadiatrie|May 1, 1980
Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase BU Burck, K Harzer, H H Goebel, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 9, 1996
A simple method for screening for Farber disease on cultured skin fibroblastsM Chatelut, J Feunteun, K Harzer, et al.Journal of Neurology|October 1, 1987
Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical studyW Schlote, B Molzer, J Peiffer, et al.Pageof 11