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Clinical Chemistry
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June 1, 1996
Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples
M T McCann, M M Thompson, I C Gueron, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency
M Tuchman, S M Mauer, R A Holzknecht, et al.
The Journal of Pediatrics
|
April 1, 1997
A syndrome of congenital hyperinsulinism and hyperammonemia
S A Weinzimer, C A Stanley, G T Berry, et al.
Scientific Reports
|
February 12, 2021
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
P Sonaimuthu, E Senkevitch, N Haskins, et al.
American Journal of Medical Genetics
|
August 18, 2000
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype
B A McCullough, M Yudkoff, M L Batshaw, et al.
The Journal of Pediatrics
|
March 1, 1987
Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation
M Tuchman, D K Freese, H L Sharp, et al.
Clinical Chemistry
|
October 1, 1993
Determination of apolipoprotein E genotypes by single-strand conformational polymorphism
M Y Tsai, P Suess, K Schwichtenberg, et al.
Journal of Chromatographic Science
|
May 1, 1984
Determination of urinary succinylacetone by capillary gas chromatography
M Tuchman, C B Whitley, M L Ramnaraine, et al.
The Biochemical Journal
|
January 10, 1998
Expression, purification, and characterization of recombinant human glutamine synthetase
C D Listrom, H Morizono, B S Rajagopal, et al.
American Journal of Medical Genetics
|
December 18, 1996
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation
M J Ahrens, S A Berry, C B Whitley, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 112) with videos related to
Sort By:
Page
of 12
Clinical Chemistry
|
June 1, 1996
Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples
M T McCann, M M Thompson, I C Gueron, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency
M Tuchman, S M Mauer, R A Holzknecht, et al.
The Journal of Pediatrics
|
April 1, 1997
A syndrome of congenital hyperinsulinism and hyperammonemia
S A Weinzimer, C A Stanley, G T Berry, et al.
Scientific Reports
|
February 12, 2021
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
P Sonaimuthu, E Senkevitch, N Haskins, et al.
American Journal of Medical Genetics
|
August 18, 2000
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype
B A McCullough, M Yudkoff, M L Batshaw, et al.
The Journal of Pediatrics
|
March 1, 1987
Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation
M Tuchman, D K Freese, H L Sharp, et al.
Clinical Chemistry
|
October 1, 1993
Determination of apolipoprotein E genotypes by single-strand conformational polymorphism
M Y Tsai, P Suess, K Schwichtenberg, et al.
Journal of Chromatographic Science
|
May 1, 1984
Determination of urinary succinylacetone by capillary gas chromatography
M Tuchman, C B Whitley, M L Ramnaraine, et al.
The Biochemical Journal
|
January 10, 1998
Expression, purification, and characterization of recombinant human glutamine synthetase
C D Listrom, H Morizono, B S Rajagopal, et al.
American Journal of Medical Genetics
|
December 18, 1996
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation
M J Ahrens, S A Berry, C B Whitley, et al.
Page
of 12