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E F Neufeld

Showing results (81-90 of 104) with videos related to

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American Journal of Human Genetics|September 1, 1977
X-linked Hunter syndrome: the heterozygous phenotype in cell cultureB R Migeon, J A Sprenkle, I Liebaers, et al.
American Journal of Human Genetics|October 1, 1990
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programB H Paw, P T Tieu, M M Kaback, et al.
The Journal of Biological Chemistry|February 25, 1989
Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsD V Quon, R L Proia, A V Fowler, et al.
The Journal of Biological Chemistry|September 10, 1984
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiencyA d'Azzo, R L Proia, E H Kolodny, et al.
Transactions of the Association of American Physicians|January 1, 1972
Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapyV A McKusick, R R Howell, I E Hussels, et al.
American Journal of Human Genetics|September 1, 1977
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?E F Neufeld, I Liebaers, C J Epstein, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 1, 1981
Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cellsM C Willingham, I H Pastan, G G Sahagian, et al.
The Journal of Biological Chemistry|March 25, 1988
Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsL E Little, M M Lau, D V Quon, et al.
Lancet (London, England)|May 6, 1972
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidosesV A McKusick, R R Howell, I E Hussels, et al.
The Journal of Biological Chemistry|June 5, 1990
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidaseB H Paw, S M Moskowitz, N Uhrhammer, et al.
Pageof 11

Showing results (81-90 of 104) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|September 1, 1977
X-linked Hunter syndrome: the heterozygous phenotype in cell cultureB R Migeon, J A Sprenkle, I Liebaers, et al.
American Journal of Human Genetics|October 1, 1990
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programB H Paw, P T Tieu, M M Kaback, et al.
The Journal of Biological Chemistry|February 25, 1989
Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsD V Quon, R L Proia, A V Fowler, et al.
The Journal of Biological Chemistry|September 10, 1984
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiencyA d'Azzo, R L Proia, E H Kolodny, et al.
Transactions of the Association of American Physicians|January 1, 1972
Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapyV A McKusick, R R Howell, I E Hussels, et al.
American Journal of Human Genetics|September 1, 1977
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?E F Neufeld, I Liebaers, C J Epstein, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 1, 1981
Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cellsM C Willingham, I H Pastan, G G Sahagian, et al.
The Journal of Biological Chemistry|March 25, 1988
Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsL E Little, M M Lau, D V Quon, et al.
Lancet (London, England)|May 6, 1972
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidosesV A McKusick, R R Howell, I E Hussels, et al.
The Journal of Biological Chemistry|June 5, 1990
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidaseB H Paw, S M Moskowitz, N Uhrhammer, et al.
Pageof 11