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Stephen Cederbaum

Showing results (21-30 of 38) with videos related to

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Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|December 25, 2007
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne L Arnold, Dwight D Koeberl, Dietrich Matern, et al.
Molecular Genetics and Metabolism|May 12, 2012
Recommendations for the use of sapropterin in phenylketonuriaAmy Cunningham, Heather Bausell, Mary Brown, et al.
Molecular Genetics and Metabolism Reports|March 18, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemiaYue Huang, Rajesh Sharma, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 14, 2009
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGHOleg A Shchelochkov, Fang-Yuan Li, Michael T Geraghty, et al.
Human Genetics|August 22, 2002
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemiaStéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|December 25, 2007
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne L Arnold, Dwight D Koeberl, Dietrich Matern, et al.
Molecular Genetics and Metabolism|May 12, 2012
Recommendations for the use of sapropterin in phenylketonuriaAmy Cunningham, Heather Bausell, Mary Brown, et al.
Molecular Genetics and Metabolism Reports|March 18, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemiaYue Huang, Rajesh Sharma, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 14, 2009
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGHOleg A Shchelochkov, Fang-Yuan Li, Michael T Geraghty, et al.
Human Genetics|August 22, 2002
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemiaStéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
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