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P Hechtman

Showing results (21-30 of 42) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1991
Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutationF Kaplan, B Boulay, J Bayleran, et al.
American Journal of Human Genetics|October 1, 1987
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patientsJ Bayleran, P Hechtman, E Kolodny, et al.
Human Genetics|April 1, 1992
The French Canadian Tay-Sachs disease deletion mutation: identification of probable foundersM De Braekeleer, P Hechtman, E Andermann, et al.
Pediatric Research|December 1, 1988
In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiencyP Hechtman, A Richter, N Corman, et al.
Pediatric Research|October 1, 1977
Red blood cell carbonic anhydrase activity in children with distal renal tubular acidosisB S Kaplan, M Mills, P Hechtman, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblastsM J Fernandes, P Hechtman, B Boulay, et al.
Pediatric Research|March 1, 1982
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant ABP Hechtman, B A Gordon, N M Ng Ying Kin
Human Mutation|January 1, 1992
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian familyI Trop, F Kaplan, C Brown, et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire|January 1, 1989
Purification and characterization of activated human erythrocyte prolidaseA M Richter, G L Lancaster, F Y Choy, et al.
American Journal of Human Genetics|June 1, 1987
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs diseaseG Zokaeem, J Bayleran, P Kaplan, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|January 1, 1991
Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutationF Kaplan, B Boulay, J Bayleran, et al.
American Journal of Human Genetics|October 1, 1987
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patientsJ Bayleran, P Hechtman, E Kolodny, et al.
Human Genetics|April 1, 1992
The French Canadian Tay-Sachs disease deletion mutation: identification of probable foundersM De Braekeleer, P Hechtman, E Andermann, et al.
Pediatric Research|December 1, 1988
In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiencyP Hechtman, A Richter, N Corman, et al.
Pediatric Research|October 1, 1977
Red blood cell carbonic anhydrase activity in children with distal renal tubular acidosisB S Kaplan, M Mills, P Hechtman, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblastsM J Fernandes, P Hechtman, B Boulay, et al.
Pediatric Research|March 1, 1982
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant ABP Hechtman, B A Gordon, N M Ng Ying Kin
Human Mutation|January 1, 1992
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian familyI Trop, F Kaplan, C Brown, et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire|January 1, 1989
Purification and characterization of activated human erythrocyte prolidaseA M Richter, G L Lancaster, F Y Choy, et al.
American Journal of Human Genetics|June 1, 1987
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs diseaseG Zokaeem, J Bayleran, P Kaplan, et al.
Pageof 5