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Neuropediatrics|June 10, 2005
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientM Elleder, M Jerábková, A Befekadu, et al.Human Genetics|November 1, 1986
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduriaK Harzer, M Cantz, A C Sewell, et al.Journal of the Neurological Sciences|January 1, 1997
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblingsE Hund, A Grau, W Fogel, et al.Journal of Inherited Metabolic Disease|September 10, 2005
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrateO P van Diggelen, Ya V Voznyi, J L M Keulemans, et al.Neuropediatrics|September 3, 2005
Possible genotype-phenotype correlations in children with mild clinical course of Canavan diseaseU Tacke, H Olbrich, J O Sass, et al.Neuropediatrics|December 19, 2003
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 KK Harzer, A Rolfs, P Bauer, et al.Human Molecular Genetics|April 20, 2001
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulationH Hulková, M Cervenková, J Ledvinová, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|June 27, 1997
Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficienciesM Chatelut, K Harzer, H Christomanou, et al.Pageof 11