Showing results (81-90 of 148) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|March 1, 1997
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A geneM E Chamberlin, T Ubagai, S H Mudd, et al.
Acta Crystallographica. Section E, Crystallographic Communications|May 9, 2024
Synthesis and crystal structures of N,2,4,6-tetra-methyl-anilinium tri-fluoro-methane-sulfonate and N-iso-propyl-idene-N,2,4,6-tetra-methyl-anilinium tri-fluoro-methane-sulfonateJohn W Stewart, Elena M Irons, Giovanna Osorio Abanto, et al.
American Journal of Medical Genetics|May 1, 1994
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patientM Irons, E R Elias, G S Tint, et al.
JAMA|June 2, 1978
Screening for congenital hypothyroidism. Results in the newborn population of New EnglandM L Mitchell, P R Larsen, H L Levy, et al.
Metabolism: Clinical and Experimental|January 6, 2001
Isolated hypermethioninemia: measurements of S-adenosylmethionine and cholineS H Mudd, D J Jenden, A Capdevila, et al.
The New England Journal of Medicine|May 26, 1983
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemiaM K Hostetter, H L Levy, H S Winter, et al.
American Journal of Public Health|July 1, 1988
The New England Maternal PKU Project: identification of at-risk womenS E Waisbren, L B Doherty, I V Bailey, et al.
BMC Genetics|July 31, 2001
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutationN Dreumont, J A Poudrier, A Bergeron, et al.
The Journal of Pediatrics|September 20, 2001
Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acidsL R Kalsner, F J Rohr, K A Strauss, et al.
American Journal of Public Health|December 1, 1995
Psychosocial factors in maternal phenylketonuria: women's adherence to medical recommendationsS E Waisbren, B D Hamilton, P J St James, et al.
Pageof 15