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Clinical Chemistry
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March 1, 2014
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers
Yijun Li, Xiaoping Huang, Lauren Harmonay, et al.
Molecular Genetics and Metabolism
|
June 30, 2012
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia
Ying Liu, Baoyun Xia, Tyler J Gleason, et al.
The Journal of Clinical Investigation
|
August 9, 2011
Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice
W Timothy O'Brien, Jian Huang, Roberto Buccafusca, et al.
Molecular Genetics and Metabolism
|
January 20, 2004
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
Gerard T Berry, Peter J Moate, Robert A Reynolds, et al.
JIMD Reports
|
May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis
Can Ficicioglu, Didem Demirbas, Britt Derks, et al.
Journal of Child Neurology
|
November 1, 2016
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria
Lance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, et al.
Pediatrics
|
November 5, 2003
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
Laura N Venditti, Charles P Venditti, Gerard T Berry, et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology
|
August 9, 2013
Inositol-related gene knockouts mimic lithium's effect on mitochondrial function
Lilach Toker, Yuly Bersudsky, Inbar Plaschkes, et al.
Pediatrics
|
June 3, 2016
A 10-Month-Old With Intermittent Hypotonia and Paralysis
Beate C Beinvogl, N Paul Rosman, Fiona M Baumer, et al.
Journal of Inherited Metabolic Disease
|
September 16, 2017
Impaired fertility and motor function in a zebrafish model for classic galactosemia
Jo M Vanoevelen, Britt van Erven, Jörgen Bierau, et al.
Page
of 14
Search research articles
Search
Showing results (51-60 of 138) with videos related to
Sort By:
Page
of 14
Clinical Chemistry
|
March 1, 2014
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers
Yijun Li, Xiaoping Huang, Lauren Harmonay, et al.
Molecular Genetics and Metabolism
|
June 30, 2012
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia
Ying Liu, Baoyun Xia, Tyler J Gleason, et al.
The Journal of Clinical Investigation
|
August 9, 2011
Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice
W Timothy O'Brien, Jian Huang, Roberto Buccafusca, et al.
Molecular Genetics and Metabolism
|
January 20, 2004
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
Gerard T Berry, Peter J Moate, Robert A Reynolds, et al.
JIMD Reports
|
May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis
Can Ficicioglu, Didem Demirbas, Britt Derks, et al.
Journal of Child Neurology
|
November 1, 2016
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria
Lance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, et al.
Pediatrics
|
November 5, 2003
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
Laura N Venditti, Charles P Venditti, Gerard T Berry, et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology
|
August 9, 2013
Inositol-related gene knockouts mimic lithium's effect on mitochondrial function
Lilach Toker, Yuly Bersudsky, Inbar Plaschkes, et al.
Pediatrics
|
June 3, 2016
A 10-Month-Old With Intermittent Hypotonia and Paralysis
Beate C Beinvogl, N Paul Rosman, Fiona M Baumer, et al.
Journal of Inherited Metabolic Disease
|
September 16, 2017
Impaired fertility and motor function in a zebrafish model for classic galactosemia
Jo M Vanoevelen, Britt van Erven, Jörgen Bierau, et al.
Page
of 14