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Molecular Genetics and Metabolism
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February 4, 2010
Future treatment strategies in phenylketonuria
Francjan J van Spronsen, Gregory M Enns
Journal of Genetic Counseling
|
January 9, 2014
Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms
Julia Platt, Rachel Cox, Gregory M Enns
American Journal of Medical Genetics. Part A
|
August 14, 2012
Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?
Yael Wilnai, Laurie H Seaver, Gregory M Enns
Pediatric Transplantation
|
February 16, 2012
Propionic acidemia: to liver transplant or not to liver transplant?
Kimberly A Chapman, Marshall L Summar, Gregory M Enns
Pediatric Transplantation
|
July 10, 2016
Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United States
Thomas A Pham, Gregory M Enns, Carlos O Esquivel
JIMD Reports
|
July 10, 2017
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, et al.
Molecular Genetics and Metabolism
|
September 27, 2005
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed
Renata C Gallagher, Tina M Cowan, Stephen I Goodman, et al.
Ultrastructural Pathology
|
June 17, 2014
Abnormal hepatocellular mitochondria in methylmalonic acidemia
Yael Wilnai, Gregory M Enns, Anna-Kaisa Niemi, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Mild developmental delay in terminal chromosome 6p deletion
Kelly M Chen, Athena M Cherry, Jin S Hahn, et al.
Molecular Genetics and Metabolism
|
October 17, 2017
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy
Anna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, et al.
Page
of 14
Search research articles
Search
Showing results (11-20 of 135) with videos related to
Sort By:
Page
of 14
Molecular Genetics and Metabolism
|
February 4, 2010
Future treatment strategies in phenylketonuria
Francjan J van Spronsen, Gregory M Enns
Journal of Genetic Counseling
|
January 9, 2014
Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms
Julia Platt, Rachel Cox, Gregory M Enns
American Journal of Medical Genetics. Part A
|
August 14, 2012
Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?
Yael Wilnai, Laurie H Seaver, Gregory M Enns
Pediatric Transplantation
|
February 16, 2012
Propionic acidemia: to liver transplant or not to liver transplant?
Kimberly A Chapman, Marshall L Summar, Gregory M Enns
Pediatric Transplantation
|
July 10, 2016
Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United States
Thomas A Pham, Gregory M Enns, Carlos O Esquivel
JIMD Reports
|
July 10, 2017
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, et al.
Molecular Genetics and Metabolism
|
September 27, 2005
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed
Renata C Gallagher, Tina M Cowan, Stephen I Goodman, et al.
Ultrastructural Pathology
|
June 17, 2014
Abnormal hepatocellular mitochondria in methylmalonic acidemia
Yael Wilnai, Gregory M Enns, Anna-Kaisa Niemi, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Mild developmental delay in terminal chromosome 6p deletion
Kelly M Chen, Athena M Cherry, Jin S Hahn, et al.
Molecular Genetics and Metabolism
|
October 17, 2017
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy
Anna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, et al.
Page
of 14