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E W Naylor

Showing results (51-60 of 60) with videos related to

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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.
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.
Journal of Inherited Metabolic Disease|October 22, 2008
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patientsS F Dobrowolski, A L Pey, R Koch, et al.
Pediatric Research|May 1, 1995
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequenciesR Ziadeh, E P Hoffman, D N Finegold, et al.
Human Molecular Genetics|September 1, 1994
Deletion of the ferrochelatase gene in a patient with protoporphyriaS T Magness, A Tugores, S R Christensen, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
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.
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.
Journal of Inherited Metabolic Disease|October 22, 2008
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patientsS F Dobrowolski, A L Pey, R Koch, et al.
Pediatric Research|May 1, 1995
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequenciesR Ziadeh, E P Hoffman, D N Finegold, et al.
Human Molecular Genetics|September 1, 1994
Deletion of the ferrochelatase gene in a patient with protoporphyriaS T Magness, A Tugores, S R Christensen, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Pageof 6