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Pediatrics|December 1, 1981
Outcome of early and long-term management of classical maple syrup urine diseaseC L Clow, T M Reade, C R Scriver
The Biochemical Journal|August 15, 1983
Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinateJ A Montgomery, O A Mamer, C R Scriver
Nucleic Acids Research|January 1, 1996
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locusL Hoang, S Byck, L Prevost, et al.
In Vitro Cellular & Developmental Biology : Journal of the Tissue Culture Association|July 1, 1988
Initiation and characterization of primary mouse kidney epithelial culturesC L Bell, H S Tenenhouse, C R Scriver
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 Scriver
Molecular 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 Parniak
European 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 Scriver
Nucleic 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.
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