Gerard T Berry

Gerard T Berry

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Gerard T Berry

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene () causing pyruvate dehydrogenase complex deficiency.

JIMD Rep 2019 Jul 17;48(1):26-35. Epub 2019 Jun 17.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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http://dx.doi.org/10.1002/jmd2.12054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606986PMC
July 2019

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Mol Genet Metab 2019 04 22;126(4):368-376. Epub 2019 Jan 22.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.016DOI Listing
April 2019

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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http://dx.doi.org/10.1002/jmd2.12018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818PMC
March 2019

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Clin Chem 2018 12;64(12):1785-1787

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA;

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http://dx.doi.org/10.1373/clinchem.2018.293696DOI Listing
December 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 12 11;176(12):2768-2776. Epub 2018 Dec 11.

Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40628
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http://dx.doi.org/10.1002/ajmg.a.40628DOI Listing
December 2018

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Mol Genet Metab 2018 09 15;125(1-2):118-126. Epub 2018 Jun 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183011
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http://dx.doi.org/10.1016/j.ymgme.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557438PMC
September 2018

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Clin Chem 2018 08;64(8):1260-1262

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA;

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http://dx.doi.org/10.1373/clinchem.2018.291146DOI Listing
August 2018

Hereditary galactosemia.

Metabolism 2018 06 31;83:188-196. Epub 2018 Jan 31.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2018.01.025DOI Listing
June 2018

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Mol Genet Metab 2018 06 6;124(2):161-167. Epub 2018 Apr 6.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183004
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http://dx.doi.org/10.1016/j.ymgme.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976541PMC
June 2018

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Mol Genet Metab 2018 05 10;124(1):82-86. Epub 2018 Mar 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2018.03.002DOI Listing
May 2018

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Pediatr Clin North Am 2018 04;65(2):337-352

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Center for Life Science Building, 3 Blackfan Circle, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.008DOI Listing
April 2018

Impaired fertility and motor function in a zebrafish model for classic galactosemia.

J Inherit Metab Dis 2018 01 14;41(1):117-127. Epub 2017 Sep 14.

Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, P.O. Box 616, box 16, 6200 MD, Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0071-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786655PMC
January 2018

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation.

Authors:
Gerard T Berry

Mol Genet Metab Rep 2017 Sep 21;12. Epub 2017 Feb 21.

Boston Children's Hospital/Harvard Medical School, 3 Blackfan Circle CLS Suite 14070, Boston, MA 02115, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320054PMC
September 2017

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2017_55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122020PMC
September 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

High serum serotonin in sudden infant death syndrome.

Proc Natl Acad Sci U S A 2017 07 3;114(29):7695-7700. Epub 2017 Jul 3.

Center for Platelet Research Studies, Division of Hematology/Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115.

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http://dx.doi.org/10.1073/pnas.1617374114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530643PMC
July 2017

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

Mol Genet Metab 2017 05 10;121(1):9-15. Epub 2017 Mar 10.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Medicine, VA Boston Healthcare System, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.03.003DOI Listing
May 2017

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Pediatr Emerg Care 2017 Apr;33(4):296-301

From the *Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001093DOI Listing
April 2017

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Mol Genet Metab 2017 03 12;120(3):213-222. Epub 2016 Nov 12.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346465PMC
March 2017

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Pediatr Emerg Care 2017 Feb;33(2):142-146

*Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001028DOI Listing
February 2017

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

J Child Neurol 2017 01 23;32(1):127-131. Epub 2016 Oct 23.

2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/0883073816672998DOI Listing
January 2017

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a001008

Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a001008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002930PMC
September 2016

A 10-Month-Old With Intermittent Hypotonia and Paralysis.

Pediatrics 2016 07 1;138(1). Epub 2016 Jun 1.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts;

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http://dx.doi.org/10.1542/peds.2015-1896DOI Listing
July 2016

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

JIMD Rep 2017 14;32:25-32. Epub 2016 Jun 14.

Department of Pediatrics, Baystate Children's Hospital, Springfield, MA, 01199, USA.

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http://dx.doi.org/10.1007/8904_2016_547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355379PMC
June 2016

Erratum to: Disease Heterogeneity in Na/Citrate Cotransporter Deficiency.

JIMD Rep 2017 21;31:113. Epub 2016 Jun 21.

Division of Genetics and Genomics, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272842PMC
June 2016

N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.

JIMD Rep 2017 30;31:73-77. Epub 2016 Apr 30.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388641PMC
April 2016

Disease Heterogeneity in Na/Citrate Cotransporter Deficiency.

JIMD Rep 2017 10;31:107-111. Epub 2016 Mar 10.

Division of Genetics and Genomics, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388636PMC
March 2016

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.

JPEN J Parenter Enteral Nutr 2015 Sep 11;39(7):875-9. Epub 2014 Mar 11.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1177/0148607114526451DOI Listing
September 2015

Galactose metabolism and health.

Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):422-7

aDepartment of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands bThe Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA *Gerard T. Berry and M. Estela Rubio-Gozalbo contributed equally to the writing of this article.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCO.0000000000000189DOI Listing
July 2015

Menkes disease in affected females: the clinical disease spectrum.

Am J Med Genet A 2015 Feb 26;167A(2):417-20. Epub 2014 Nov 26.

Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.36853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351723PMC
February 2015

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Pediatr Nephrol 2014 Nov 28;29(11):2139-46. Epub 2014 May 28.

Molecular Medicine, Beth Israel Deaconess Medical Center-Harvard Medical School, Boston, MA, USA,

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http://dx.doi.org/10.1007/s00467-014-2847-yDOI Listing
November 2014

The complexity of newborn screening follow-up in phenylketonuria.

JIMD Rep 2014 26;17:37-9. Epub 2014 Aug 26.

Division of Genetics, Boston Children's Hospital, Boston, MA, 02115, USA,

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http://dx.doi.org/10.1007/8904_2014_329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241208PMC
November 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Eur J Hum Genet 2014 Oct 19;22(10):1229-32. Epub 2014 Feb 19.

1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169545PMC
October 2014

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

Mol Genet Metab 2014 Jul 2;112(3):191-7. Epub 2014 May 2.

Division of Genetics and Genomics, Metabolism Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.04.004DOI Listing
July 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study.

Kidney Int 2014 May 15;85(5):1214-24. Epub 2014 Jan 15.

1] Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, Massachussetts, USA [2] Department of Medicine, Harvard Medical School, Boston, Massachussetts, USA.

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http://dx.doi.org/10.1038/ki.2013.497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072128PMC
May 2014

Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.

Clin Chem 2014 May 27;60(5):783-90. Epub 2014 Feb 27.

The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics.

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http://dx.doi.org/10.1373/clinchem.2013.219931DOI Listing
May 2014

Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia.

J Agric Food Chem 2014 Feb 3;62(6):1397-402. Epub 2014 Feb 3.

Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison , 1500 Highland Avenue, Madison, Wisconsin 53705, United States.

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http://dx.doi.org/10.1021/jf404995aDOI Listing
February 2014

Inositol-related gene knockouts mimic lithium's effect on mitochondrial function.

Neuropsychopharmacology 2014 Jan 8;39(2):319-28. Epub 2013 Aug 8.

1] Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Beer-Sheva, Israel [2] Psychiatry Research Unit, Ben-Gurion University of the Negev, Beer-Sheva, Israel [3] Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1038/npp.2013.194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870788PMC
January 2014

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.

J Inherit Metab Dis 2013 Sep 11;36(5):779-86. Epub 2012 Oct 11.

Department of Clinical Genetics, Maastricht University Medical Center, Postbus 5800, 6202 AZ, Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-012-9539-1DOI Listing
September 2013

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report.

Forensic Sci Med Pathol 2013 Sep 14;9(3):418-21. Epub 2013 Jul 14.

Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s12024-013-9448-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897270PMC
September 2013

Fertility preservation in female classic galactosemia patients.

Orphanet J Rare Dis 2013 Jul 16;8:107. Epub 2013 Jul 16.

Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718676PMC
July 2013

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Epilepsia 2013 May 28;54(5):e81-5. Epub 2013 Mar 28.

Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1111/epi.12137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640694PMC
May 2013

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

Clin Biochem 2012 Dec 23;45(18):1583-6. Epub 2012 Aug 23.

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.08.015DOI Listing
December 2012

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Mol Genet Metab 2012 Aug 12;106(4):442-54. Epub 2012 Jun 12.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3426456PMC
August 2012

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Mol Genet Metab 2012 Aug 30;106(4):488-90. Epub 2012 May 30.

Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.018DOI Listing
August 2012

Back to the future: from genome to metabolome.

Hum Mutat 2012 May;33(5):809-12

Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

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http://doi.wiley.com/10.1002/humu.22073
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http://dx.doi.org/10.1002/humu.22073DOI Listing
May 2012

Galactosemia: when is it a newborn screening emergency?

Authors:
Gerard T Berry

Mol Genet Metab 2012 May 21;106(1):7-11. Epub 2012 Mar 21.

The Manton Center for Orphan Disease Research, Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.007DOI Listing
May 2012

Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice.

J Clin Invest 2011 Sep 8;121(9):3756-62. Epub 2011 Aug 8.

Department of Medicine, Hematology-Oncology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1172/JCI45194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163947PMC
September 2011

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

J Inherit Metab Dis 2011 Apr 30;34(2):249-55. Epub 2010 Nov 30.

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http://dx.doi.org/10.1007/s10545-010-9232-1DOI Listing
April 2011

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Authors:
Gerard T Berry

J Inherit Metab Dis 2011 Apr 19;34(2):345-55. Epub 2011 Jan 19.

Division of Genetics, Children's Hospital Boston, Center for Life Sciences Building, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10545-010-9260-xDOI Listing
April 2011

Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Apr 19;879(13-14):998-1002. Epub 2011 Feb 19.

Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.jchromb.2011.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727383PMC
April 2011

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.

Clin Chem 2011 Apr;57(4):545-8

Department of Laboratory Medicine, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

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http://www.clinchem.org/content/57/4/545.full.pdf
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2010.144899
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http://dx.doi.org/10.1373/clinchem.2010.144899DOI Listing
April 2011

Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.

Mol Genet Metab 2011 Jan 21;102(1):33-40. Epub 2010 Sep 21.

The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743081PMC
January 2011

Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.

Clin Chem 2010 May 26;56(5):772-80. Epub 2010 Mar 26.

The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1373/clinchem.2009.140459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3676861PMC
May 2010

Brain phosphoinositide extraction, fractionation, and analysis by MALDI-TOF MS.

Methods Mol Biol 2009 ;579:189-200

Department of Neurology, Thomas Jefferson University Medical Center, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-60761-322-0_9DOI Listing
January 2010

Knockout mice in understanding the mechanism of action of lithium.

Biochem Soc Trans 2009 Oct;37(Pt 5):1121-5

Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1042/BST0371121DOI Listing
October 2009

The unexplored potential of the pentose phosphate pathway in health and disease.

Authors:
Gerard T Berry

J Inherit Metab Dis 2008 Dec;31(6):661

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http://dx.doi.org/10.1007/s10545-008-9971-4DOI Listing
December 2008

Metabolic profiling.

Authors:
Gerard T Berry

Nestle Nutr Workshop Ser Pediatr Program 2008 ;62:55-75; discussion 75-80

Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1159/000146249DOI Listing
November 2008

Galactosemia and amenorrhea in the adolescent.

Authors:
Gerard T Berry

Ann N Y Acad Sci 2008 ;1135:112-7

Division of Genetics, Children's Hospital Boston, Boston, Masschusetts 02115, USA.

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http://doi.wiley.com/10.1196/annals.1429.038
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http://dx.doi.org/10.1196/annals.1429.038DOI Listing
September 2008

Homozygote inositol transporter knockout mice show a lithium-like phenotype.

Bipolar Disord 2008 Jun;10(4):453-9

Stanley Research Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beersheva, Israel.

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http://dx.doi.org/10.1111/j.1399-5618.2007.00546.xDOI Listing
June 2008

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Mol Genet Metab 2008 Feb 3;93(2):179-89. Epub 2007 Dec 3.

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.021DOI Listing
February 2008

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

N Engl J Med 2007 May;356(22):2282-92

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1056/NEJMoa066596DOI Listing
May 2007

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

Mol Genet Metab 2007 Jan 17. Epub 2007 Jan 17.

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ont., Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2006.11.011DOI Listing
January 2007

SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior.

Mol Genet Metab 2006 Aug 27;88(4):384-8. Epub 2006 Apr 27.

Stanley Research Center, Faculty of Health Sciences, Ben Gurion University of the Negev and Mental Health Center, Beer Sheva, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.007DOI Listing
August 2006

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.

Mol Genet Metab 2006 Aug 5;88(4):322-6. Epub 2006 Jun 5.

Section of Metabolism, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.003DOI Listing
August 2006

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

Mol Genet Metab 2005 Dec 8;86(4):473-7. Epub 2005 Nov 8.

Department of Pediatrics, Divisions of Human Genetics and Molecular Biology and Endocrinology and Diabetes, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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December 2005

Extended [13C]galactose oxidation studies in patients with galactosemia.

Mol Genet Metab 2004 Jun;82(2):130-6

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.

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June 2004

Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain.

Mol Genet Metab 2004 May;82(1):87-92

Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.02.002DOI Listing
May 2004

The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.

Mol Genet Metab 2004 Jan;81(1):22-30

Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.08.026DOI Listing
January 2004

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.

Pediatrics 2003 Nov;112(5):1005-15

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1542/peds.112.5.1005DOI Listing
November 2003