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Gerard T Berry

Showing results (61-70 of 138) with videos related to

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AJNR. American Journal of Neuroradiology|August 15, 2003
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiencyDina J Zand, Erin M Simon, Steven B Pulitzer, et al.
Blood|November 30, 2013
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locusVijay G Sankaran, Mugdha Joshi, Akshat Agrawal, et al.
Molecular Genetics and Metabolism|April 29, 2006
SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behaviorAlona Shaldubina, Roy A Johanson, W Timothy O'Brien, et al.
Pediatric Nephrology (Berlin, Germany)|May 29, 2014
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidneyZsuzsanna K Zsengellér, Nika Aljinovic, Lisa A Teot, et al.
The Journal of Biological Chemistry|February 13, 2003
Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apneaGerard T Berry, Shuang Wu, Roberto Buccafusca, et al.
JIMD Reports|May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/NullKara Simpson, Erin L MacLeod, Julia Clayton, et al.
JIMD Reports|February 15, 2015
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic GalactosemiaThanh-Thanh Claire V Tran, Ying Liu, Michael E Zwick, et al.
European Journal of Human Genetics : EJHG|June 29, 2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP geneBoxun Zhao, Jill A Madden, Jasmine Lin, et al.
Molecular Genetics and Metabolism|July 10, 2012
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type ISaumya S Jamuar, Stephanie A Newton, Sanjay P Prabhu, et al.
JIMD Reports|September 10, 2017
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old FemaleFarrah Rajabi, Lance H Rodan, Maureen M Jonas, et al.
Pageof 14

Showing results (61-70 of 138) with videos related to

Sort By:
Pageof 14
AJNR. American Journal of Neuroradiology|August 15, 2003
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiencyDina J Zand, Erin M Simon, Steven B Pulitzer, et al.
Blood|November 30, 2013
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locusVijay G Sankaran, Mugdha Joshi, Akshat Agrawal, et al.
Molecular Genetics and Metabolism|April 29, 2006
SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behaviorAlona Shaldubina, Roy A Johanson, W Timothy O'Brien, et al.
Pediatric Nephrology (Berlin, Germany)|May 29, 2014
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidneyZsuzsanna K Zsengellér, Nika Aljinovic, Lisa A Teot, et al.
The Journal of Biological Chemistry|February 13, 2003
Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apneaGerard T Berry, Shuang Wu, Roberto Buccafusca, et al.
JIMD Reports|May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/NullKara Simpson, Erin L MacLeod, Julia Clayton, et al.
JIMD Reports|February 15, 2015
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic GalactosemiaThanh-Thanh Claire V Tran, Ying Liu, Michael E Zwick, et al.
European Journal of Human Genetics : EJHG|June 29, 2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP geneBoxun Zhao, Jill A Madden, Jasmine Lin, et al.
Molecular Genetics and Metabolism|July 10, 2012
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type ISaumya S Jamuar, Stephanie A Newton, Sanjay P Prabhu, et al.
JIMD Reports|September 10, 2017
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old FemaleFarrah Rajabi, Lance H Rodan, Maureen M Jonas, et al.
Pageof 14