R J Desnick|S R Thorpe|M B Fiddler - JoVE Visualize

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Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research|August 1, 2000

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotesP Ashton-Prolla, B Tong, J Shabbeer, et al.

Proceedings of the National Academy of Sciences of the United States of America|April 15, 1992

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cellsM Suchi, T Dinur, R J Desnick, et al.

Acta Neuropathologica|December 30, 1975

I-cell disease (mucolipidosis II):a report on its pathologyJ J Martin, J G Leroy, J P Farriaux, et al.

Annals of the New York Academy of Sciences|January 1, 1987

delta-Aminolevulinic acid dehydratase isozymes and lead toxicityK H Astrin, D F Bishop, J G Wetmur, et al.

Human Gene Therapy|December 1, 1992

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelinT Dinur, E H Schuchman, E Fibach, et al.

American Journal of Human Genetics|December 1, 1993

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseC M Eng, L A Resnick-Silverman, D J Niehaus, et al.

Proceedings of the National Academy of Sciences of the United States of America|November 1, 1985

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase AD H Calhoun, D F Bishop, H S Bernstein, et al.

Archives of Dermatology|September 1, 1992

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activityC A Warner, M B Poh-Fitzpatrick, E F Zaider, et al.

Genomics|February 1, 1991

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4L da Veiga Pereira, R J Desnick, D A Adler, et al.

Annales De Genetique|January 1, 1997

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two casesP D Cotter, A Babu, L D McCurdy, et al.

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Showing results (221-230 of 399) with videos related to

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Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research|August 1, 2000

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotesP Ashton-Prolla, B Tong, J Shabbeer, et al.

Proceedings of the National Academy of Sciences of the United States of America|April 15, 1992

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cellsM Suchi, T Dinur, R J Desnick, et al.

Acta Neuropathologica|December 30, 1975

I-cell disease (mucolipidosis II):a report on its pathologyJ J Martin, J G Leroy, J P Farriaux, et al.

Annals of the New York Academy of Sciences|January 1, 1987

delta-Aminolevulinic acid dehydratase isozymes and lead toxicityK H Astrin, D F Bishop, J G Wetmur, et al.

Human Gene Therapy|December 1, 1992

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelinT Dinur, E H Schuchman, E Fibach, et al.

American Journal of Human Genetics|December 1, 1993

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseC M Eng, L A Resnick-Silverman, D J Niehaus, et al.

Proceedings of the National Academy of Sciences of the United States of America|November 1, 1985

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase AD H Calhoun, D F Bishop, H S Bernstein, et al.

Archives of Dermatology|September 1, 1992

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activityC A Warner, M B Poh-Fitzpatrick, E F Zaider, et al.

Genomics|February 1, 1991

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4L da Veiga Pereira, R J Desnick, D A Adler, et al.

Annales De Genetique|January 1, 1997

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two casesP D Cotter, A Babu, L D McCurdy, et al.

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