W Baier|K Harzer - JoVE Visualize

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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.

Cardiology in the Young|December 22, 2025

Risk factors of mortality in preterm and early-term neonates following surgery for CHDIzabela Leahy, Amanda W Baier, Steven J Staffa, 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.

Leukemia & Lymphoma|August 1, 1995

Relative roles of natural killer- and T cell-mediated anti-leukemia effects in chronic myelogenous leukemia patients treated with interferon-alphaG Pawelec, P Da Silva, H Max, 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.

International Journal of Immunopharmacology|March 10, 2000

Generation of antibodies directed against the low-immunogenic peptide-toxins microcystin-LR/RR and nodularinW Baier, M Loleit, B Fischer, 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 14

Showing results (121-130 of 133) with videos related to

Sort By:

Pageof 14

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.

Cardiology in the Young|December 22, 2025

Risk factors of mortality in preterm and early-term neonates following surgery for CHDIzabela Leahy, Amanda W Baier, Steven J Staffa, 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.

Leukemia & Lymphoma|August 1, 1995

Relative roles of natural killer- and T cell-mediated anti-leukemia effects in chronic myelogenous leukemia patients treated with interferon-alphaG Pawelec, P Da Silva, H Max, 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.

International Journal of Immunopharmacology|March 10, 2000

Generation of antibodies directed against the low-immunogenic peptide-toxins microcystin-LR/RR and nodularinW Baier, M Loleit, B Fischer, 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 14