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A Fensom

Showing results (11-20 of 21) with videos related to

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Clinical Chemistry|July 1, 1993
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivityA Isaksson, B Hultberg, P Masson, et al.
Sangre|February 1, 1992
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical studyM B Viana, V H Leite, R Giugliani, et al.
Journal of Medical Genetics|September 1, 1994
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy populationM L Barth, C Ward, A Harris, et al.
Nature|November 3, 1983
Direct enzyme transfer from lymphocytes is specificI Olsen, H Muir, R Smith, et al.
Neuroreport|July 28, 1997
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's diseaseM Philpot, K Lewis, M L Pereria, et al.
Science (New York, N.Y.)|December 23, 2000
Identification of HE1 as the second gene of Niemann-Pick C diseaseS Naureckiene, D E Sleat, H Lackland, et al.
Journal of Medical Genetics|August 1, 1990
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosisM B Viana, R Giugliani, V H Leite, et al.
Bone Marrow Transplantation|February 5, 2008
Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe diseaseZ Y Lim, A Y L Ho, S Abrahams, et al.
American Journal of Human Genetics|March 1, 1996
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIR Vervoort, M R Islam, W S Sly, et al.
Journal of Inherited Metabolic Disease|May 11, 1999
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseJ R Bonham, P Guthrie, M Downing, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Clinical Chemistry|July 1, 1993
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivityA Isaksson, B Hultberg, P Masson, et al.
Sangre|February 1, 1992
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical studyM B Viana, V H Leite, R Giugliani, et al.
Journal of Medical Genetics|September 1, 1994
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy populationM L Barth, C Ward, A Harris, et al.
Nature|November 3, 1983
Direct enzyme transfer from lymphocytes is specificI Olsen, H Muir, R Smith, et al.
Neuroreport|July 28, 1997
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's diseaseM Philpot, K Lewis, M L Pereria, et al.
Science (New York, N.Y.)|December 23, 2000
Identification of HE1 as the second gene of Niemann-Pick C diseaseS Naureckiene, D E Sleat, H Lackland, et al.
Journal of Medical Genetics|August 1, 1990
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosisM B Viana, R Giugliani, V H Leite, et al.
Bone Marrow Transplantation|February 5, 2008
Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe diseaseZ Y Lim, A Y L Ho, S Abrahams, et al.
American Journal of Human Genetics|March 1, 1996
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIR Vervoort, M R Islam, W S Sly, et al.
Journal of Inherited Metabolic Disease|May 11, 1999
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseJ R Bonham, P Guthrie, M Downing, et al.
Pageof 3