Gerard T Berry
Affiliation: Harvard University
- Galactosemia: when is it a newborn screening emergency?Gerard T Berry
The Manton Center for Orphan Disease Research, Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Mol Genet Metab 106:7-11. 2012..The purpose of this review is to help the clinician make the correct therapeutic decision after an NBS test has returned positive for galactosemia...
- Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?Gerard T Berry
Division of Genetics, Children s Hospital Boston, Center for Life Sciences Building, Boston, MA, 02115, USA
J Inherit Metab Dis 34:345-55. 2011..If myo-inositol deficiency is found to exist in the GALT-deficient fetal brain, then the use of myo-inositol to treat the fetus via oral supplementation of the pregnant female may warrant consideration...
- Galactosemia and amenorrhea in the adolescentGerard T Berry
Division of Genetics, Children s Hospital Boston, Boston, Masschusetts 02115, USA
Ann N Y Acad Sci 1135:112-7. 2008....
- Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficienciesYijun Li
The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
Mol Genet Metab 102:33-40. 2011..No GALK activity was detected in a GALK deficient sample we analyzed. Lastly, we tested the feasibility of adapting this LC-MS/MS based GALT/GALK assay as a newborn screening (NBS) test...
- Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissueYijun Li
Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
J Chromatogr B Analyt Technol Biomed Life Sci 879:998-1002. 2011..p.) injection of bumetanide, and were used to calculate bumetanide permeability through the blood-brain barrier...
- The adult galactosemic phenotypeSusan E Waisbren
Children s Hospital Boston, Boston, MA, USA
J Inherit Metab Dis 35:279-86. 2012..Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression...
- Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometryYijun Li
The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Clin Chem 56:772-80. 2010..We developed a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for GALT enzyme activity measurement...
- Exploring concordance and discordance for return of incidental findings from clinical sequencingRobert C Green
Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
Genet Med 14:405-10. 2012..The aim of this study was to explore specific conditions and types of genetic variants that specialists in genetics recommend should be returned as incidental findings in clinical sequencing...
- Back to the future: from genome to metabolomeJoseph V Thakuria
Department of Genetics, Harvard Medical School, Boston, MA 02114, USA
Hum Mutat 33:809-12. 2012..Our initial focus targets 88 genes involved in 68 metabolic disturbances with established evidence-based nutritional and/or pharmacological therapy as part of standard medical care...
- Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 78:89-102. 2006..Long-term follow-up studies of these and other patients will be required to elucidate the clinical significance of these biochemical abnormalities and the potential impact of dietary intervention on outcome...
- Extended [13C]galactose oxidation studies in patients with galactosemiaGerard T Berry
Department of Pediatrics, Division of Human Genetics and Molecular Biology and the Metabolic Research Laboratory, University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, PA 19104, USA
Mol Genet Metab 82:130-6. 2004..This capacity enables the galactosemic to maintain a balance of galactose disposal with the galactose burden imposed by endogenous formation and dietary intake...