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James J Pitt

Showing results (11-20 of 22) with videos related to

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Plos One|October 2, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locusNicole E Buck, Harriet Dashnow, James J Pitt, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
Developmental Medicine and Child Neurology|August 14, 2013
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment methodMichiel A van Werkhoven, John A Duley, Ivan McGown, 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.
Journal of Inherited Metabolic Disease|December 17, 2014
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJames J Pitt, Heidi Peters, Avihu Boneh, 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.
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyBi-Xia Ke, Salvatore Pepe, David R Grubb, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Plos One|October 2, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locusNicole E Buck, Harriet Dashnow, James J Pitt, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
Developmental Medicine and Child Neurology|August 14, 2013
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment methodMichiel A van Werkhoven, John A Duley, Ivan McGown, 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.
Journal of Inherited Metabolic Disease|December 17, 2014
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJames J Pitt, Heidi Peters, Avihu Boneh, 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.
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyBi-Xia Ke, Salvatore Pepe, David R Grubb, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Pageof 3