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American Journal of Human Genetics|September 1, 1988
Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolismC L Bell, H S Tenenhouse, C R ScriverMolecular Genetics and Metabolism|July 20, 2001
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemiaP J Waters, C R Scriver, M A ParniakEuropean Journal of Human Genetics : EJHG|January 1, 1993
'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec ProvinceE Treacy, S Byck, C Clow, et al.Biomedical & Environmental Mass Spectrometry|October 1, 1986
Stable isotope dilution assay for branched chain alpha-hydroxy-and alpha-ketoacids: serum concentrations for normal childrenO A Mamer, N S Laschic, C R ScriverNucleic Acids Research|January 1, 1997
The PAH mutation analysis consortium database: update 1996P Nowacki, S Byck, L Prevost, et al.Ciba Foundation Symposium|January 1, 1996
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis ConsortiumC R Scriver, S Byck, L Prevost, et al.The Journal of Clinical Investigation|December 1, 1983
Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?J A Montgomery, O A Mamer, C R ScriverNucleic Acids Research|February 21, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databasesP M Nowacki, S Byck, L Prevost, et al.Biochimica Et Biophysica Acta|December 1, 1980
The relationship of 4-aminobutyric acid metabolism to ammoniagenesis in renal cortexP R Goodyer, G Lancaster, M Villeneuve, et al.Journal of Medical Genetics|July 1, 1993
What young people think and do when the option for cystic fibrosis carrier testing is availableJ Mitchell, C R Scriver, C L Clow, et al.Pageof 18