C R Scriver|C L Clow - JoVE Visualize

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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.

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 Scriver

Nucleic 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.

American Journal of Human Genetics|October 1, 1996

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schoolsJ J Mitchell, A Capua, C Clow, et al.

The Journal of Pediatrics|March 1, 1993

Methylmalonic acidemia with a severe chemical but benign clinical phenotypeE Treacy, C Clow, O A Mamer, et al.

Journal of Inherited Metabolic Disease|January 1, 1989

Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblastsJ Botschner, D W Smith, O Simell, et al.

American Journal of Medical Genetics|August 1, 1987

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouseA Boneh, T M Reade, C R Scriver, et al.

Pageof 18

Showing results (101-110 of 175) with videos related to

Sort By:

Pageof 18

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.

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 Scriver

Nucleic 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.

American Journal of Human Genetics|October 1, 1996

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schoolsJ J Mitchell, A Capua, C Clow, et al.

The Journal of Pediatrics|March 1, 1993

Methylmalonic acidemia with a severe chemical but benign clinical phenotypeE Treacy, C Clow, O A Mamer, et al.

Journal of Inherited Metabolic Disease|January 1, 1989

Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblastsJ Botschner, D W Smith, O Simell, et al.

American Journal of Medical Genetics|August 1, 1987

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouseA Boneh, T M Reade, C R Scriver, et al.

Pageof 18