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Molecular Genetics and Metabolism|October 6, 1998
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginaseD E Ash, L R Scolnick, Z F Kanyo, et al.Archives of Biochemistry and Biophysics|July 1, 1987
Regulation of mRNA levels for five urea cycle enzymes in rat liver by diet, cyclic AMP, and glucocorticoidsS M Morris, C L Moncman, K D Rand, et al.Pediatrics|March 1, 1987
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screeningE W Naylor, D Ennis, A G Davidson, et al.Clinical Transplantation|October 9, 1999
Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantationG M Rovera, L Sigurdsson, J Reyes, et al.American Journal of Human Genetics|September 1, 1993
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolismB A Citron, S Kaufman, S Milstien, et al.Journal of Human Genetics|May 16, 2009
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterinSteven F Dobrowolski, K Borski, C C Ellingson, et al.Human Genetics|March 1, 1993
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozymeW W Grody, R M Kern, D Klein, et al.Clinical Chemistry|June 28, 2001
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of deathD H Chace, J C DiPerna, B L Mitchell, et al.Journal of Women'S Health (2002)|September 13, 2013
Maternal screening for hypothyroidism and thyroiditis using filter paper specimensT P Foley, J J Henry, L F Hofman, et al.Clinical Chemistry|January 1, 1995
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometryD H Chace, S L Hillman, D S Millington, et al.Pageof 11