Gerard T Berry
Affiliation: Harvard University
- Fertility preservation in female classic galactosemia patientsBritt van Erven
Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, The Netherlands
Orphanet J Rare Dis 8:107. 2013..We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age. ..
- 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...
- 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....
- 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...
- Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomersYijun Li
The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics
Clin Chem 60:783-90. 2014..We sought to develop a GALE assay using a novel liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based method...
- 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...
- Witnessed sleep-related seizure and sudden unexpected death in infancy: a case reportHannah C Kinney
Department of Pathology, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
Forensic Sci Med Pathol 9:418-21. 2013..This report alerts the forensic community to the possibility that sudden and unexplained death in infants may be due to seizures...
- Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findingsMarlin Touma
Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Epilepsia 54:e81-5. 2013..In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin...
- 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...
- 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...
- Disease Heterogeneity in Na+/Citrate Cotransporter DeficiencyIrina Anselm
Department of Neurology, Harvard Medical School, Boston Children s Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA, 02115, USA
JIMD Rep . 2016..This is another example of the heterogeneity in disease expression even when the genotype is identical in the affected individuals...
- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein LevelsLance H Rodan
Division of Genetics and Genomics, Boston Children s Hospital, Harvard Medical School, Boston, MA, 02115, USA
JIMD Rep . 2016..Longer follow-up and data on the response of additional patients with transaldolase deficiency to NAC supplementation will be required to further evaluate efficacy and optimize dosing...
- De Novo TUBB2A Variant Presenting With Anterior Temporal PachygyriaLance H Rodan
Department of Pediatrics, Boston Children s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
J Child Neurol . 2016..This report serves to further delineate the phenotype of the TUBB2A-related disorders. Focal anterior temporal pachygyria may facilitate recognition of additional cases of this tubulinopathy...
- Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizuresRyan T Cleary
Department of Neurology, Children s Hospital Boston, Boston, Massachusetts, United States of America
PLoS ONE 8:e57148. 2013..Taken together, these data provide preclinical support for clinical trials of bumetanide in human neonates at risk for hypoxic encephalopathy and seizures...
- Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber
Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA
Neurology 80:1762-70. 2013..To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity...
- 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...
- 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...
- 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...
- 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...