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K Harzer

Showing results (91-100 of 95) with videos related to

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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|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 10

Showing results (91-100 of 95) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 95 results.
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|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 10