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Human Molecular Genetics|September 1, 1994
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populationsS Byck, K Morgan, L Tyfield, et al.Canadian Medical Association Journal|March 24, 2010
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn InfantC R Scriver, C Clow, E Davies, et al.Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983
Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acidJ B Kronick, O A Mamer, J Montgomery, et al.Archives of Disease in Childhood|March 1, 1981
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineB Lemieux, C Auray-Blais, R Giguère, et al.The Biochemical Journal|December 15, 1976
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolitesO A Mamer, S S Tjoa, C R Scriver, et al.Pediatric Research|February 1, 1977
The in vivo use of dithiothreitol in cystinosisD Depape-Brigger, H Goldman, C R Scriver, et al.Human Mutation|October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)P J Waters, M A Parniak, A S Hewson, et al.Proceedings of the National Academy of Sciences of the United States of America|December 1, 1976
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) ricketsE M Eicher, J L Southard, C R Scriver, et al.Pageof 18