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P P Dembure

Showing results (11-20 of 22) with videos related to

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Human Mutation|February 5, 1998
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblastsK Lai, S D Langley, P P Dembure, et al.
American Journal of Human Genetics|February 1, 1997
Molecular basis for Duarte and Los Angeles variant galactosemiaS D Langley, K Lai, P P Dembure, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2001
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiencyF Scaglia, Y Wang, R H Singh, et al.
American Journal of Human Genetics|June 1, 1994
A common mutation associated with the Duarte galactosemia alleleL J Elsas, P P Dembure, S Langley, et al.
The Journal of Pediatrics|January 1, 1996
A prevalent mutation for galactosemia among black AmericansK Lai, S D Langley, R H Singh, et al.
American Journal of Human Genetics|March 1, 1995
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single familyJ L Fridovich-Keil, S D Langley, L A Mazur, et al.
Metabolism: Clinical and Experimental|February 24, 1998
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folateA M Boddie, M T Steen, K M Sullivan, et al.
Proceedings of the Association of American Physicians|January 1, 1997
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VIM Pasquali, M J Still, T Vales, et al.
Pediatric Research|October 1, 1985
Thiamine response in maple syrup urine diseaseP M Fernhoff, D Lubitz, D J Danner, et al.
Prenatal Diagnosis|July 17, 1998
Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluidM T Steen, A M Boddie, A J Fisher, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Human Mutation|February 5, 1998
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblastsK Lai, S D Langley, P P Dembure, et al.
American Journal of Human Genetics|February 1, 1997
Molecular basis for Duarte and Los Angeles variant galactosemiaS D Langley, K Lai, P P Dembure, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2001
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiencyF Scaglia, Y Wang, R H Singh, et al.
American Journal of Human Genetics|June 1, 1994
A common mutation associated with the Duarte galactosemia alleleL J Elsas, P P Dembure, S Langley, et al.
The Journal of Pediatrics|January 1, 1996
A prevalent mutation for galactosemia among black AmericansK Lai, S D Langley, R H Singh, et al.
American Journal of Human Genetics|March 1, 1995
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single familyJ L Fridovich-Keil, S D Langley, L A Mazur, et al.
Metabolism: Clinical and Experimental|February 24, 1998
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folateA M Boddie, M T Steen, K M Sullivan, et al.
Proceedings of the Association of American Physicians|January 1, 1997
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VIM Pasquali, M J Still, T Vales, et al.
Pediatric Research|October 1, 1985
Thiamine response in maple syrup urine diseaseP M Fernhoff, D Lubitz, D J Danner, et al.
Prenatal Diagnosis|July 17, 1998
Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluidM T Steen, A M Boddie, A J Fisher, et al.
Pageof 3