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Molecular Genetics and Metabolism|July 12, 2015
Metabolite studies in HIBCH and ECHS1 defects: Implications for screeningHeidi Peters, Sacha Ferdinandusse, Jos P Ruiter, et al.
Biochemical and Biophysical Research Communications|September 18, 2012
Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse modelNicole E Buck, Samuel D Pennell, Leonie R Wood, et al.
Plos One|July 14, 2012
Mouse models for methylmalonic aciduriaHeidi L Peters, James J Pitt, Leonie R Wood, et al.
Molecular Genetics and Metabolism|August 22, 2006
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiencyStanley H Korman, James J Pitt, Avihu Boneh, et al.
The Journal of Biological Chemistry|October 14, 2003
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethalityHeidi Peters, Mikhail Nefedov, Joseph Sarsero, et al.
Brain : a Journal of Neurology|August 16, 2014
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolismHeidi Peters, Nicole Buck, Ronald Wanders, et al.
Developmental Medicine and Child Neurology|November 26, 2013
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatmentTyson L Ware, John Earl, Gajja S Salomons, et al.
Genomics|April 25, 2006
A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemiaDuangporn Jamsai, Faten Zaibak, Jim Vadolas, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
American Journal of Medical Genetics|September 5, 2002
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathyJohan L K Van Hove, Rita Van Damme-Lombaerts, Stephanie Grünewald, et al.
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