Showing results (11-20 of 140) with videos related to
Sort By:
Pageof 14
Molecular Genetics and Metabolism|February 4, 2010
Future treatment strategies in phenylketonuriaFrancjan J van Spronsen, Gregory M EnnsJournal 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 formsJulia Platt, Rachel Cox, Gregory M EnnsAmerican 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 EnnsPediatric Transplantation|July 10, 2016
Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United StatesThomas A Pham, Gregory M Enns, Carlos O EsquivelPediatric Neurosurgery|August 21, 2002
Spontaneous resolution of a prepontine arachnoid cyst. Case report and review of the literatureRobert L Dodd, Patrick D Barnes, Stephen L HuhnJIMD Reports|July 10, 2017
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase DeficiencySidharth 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 missedRenata C Gallagher, Tina M Cowan, Stephen I Goodman, et al.Ultrastructural Pathology|June 17, 2014
Abnormal hepatocellular mitochondria in methylmalonic acidemiaYael 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 deletionKelly 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 therapyAnna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, et al.Pageof 14