Publications by authors named "Michael J Bennett"

99Publications

Biochemical assays of TCA cycle and β-oxidation metabolites.

Methods Cell Biol 2020 21;155:83-120. Epub 2020 Jan 21.

Faculty of Medicine, Hebrew University of Jerusalem, Metabolic Laboratory, Department of Genetic & Metabolic Diseases, Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/bs.mcb.2019.11.021DOI Listing
January 2020

The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.3390/ijms21031043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037776PMC
February 2020

Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington Mice.

Cell Metab 2019 06 28;29(6):1258-1273.e11. Epub 2019 Mar 28.

Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583797PMC
June 2019

Cytosine-Based TET Enzyme Inhibitors.

ACS Med Chem Lett 2019 Feb 31;10(2):180-185. Epub 2019 Jan 31.

Department of Chemistry and Biochemistry, Bates College, 2 Andrews Road, Lewiston, Maine 04240, United States.

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http://pubs.acs.org/doi/10.1021/acsmedchemlett.8b00474
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http://dx.doi.org/10.1021/acsmedchemlett.8b00474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378777PMC
February 2019

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 12 19;20(12):1499-1507. Epub 2018 Oct 19.

Laboratory Corporation of America® Holdings (LabCorp), Durham, NC, USA.

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http://dx.doi.org/10.1038/s41436-018-0328-6DOI Listing
December 2018

Ethanol and C2 ceramide activate fatty acid oxidation in human hepatoma cells.

Sci Rep 2018 08 27;8(1):12923. Epub 2018 Aug 27.

Department of Gastroenterology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41598-018-31025-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110824PMC
August 2018

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

J Inherit Metab Dis 2018 03 20;41(2):157-168. Epub 2017 Nov 20.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-017-0111-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832583PMC
March 2018

Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.

Am J Hum Genet 2017 Oct 21;101(4):489-502. Epub 2017 Sep 21.

Department of Genetics, The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630162PMC
October 2017

Nuclear Acetyl-CoA Production by ACLY Promotes Homologous Recombination.

Mol Cell 2017 Jul 6;67(2):252-265.e6. Epub 2017 Jul 6.

Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Cancer Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2017.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580398PMC
July 2017

Dried Blood Spot Reference Intervals for Steroids and Amino Acids in a Neonatal Cohort of the National Children's Study.

Clin Chem 2016 Dec 26;62(12):1658-1667. Epub 2016 Oct 26.

Department of Pathology, University of Texas Southwestern Medical Center and Children's Medical Center, Dallas, TX;

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http://dx.doi.org/10.1373/clinchem.2016.263434DOI Listing
December 2016

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.

J Inherit Metab Dis 2017 03 20;40(2):291-296. Epub 2016 Oct 20.

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Blvd, 5NW58, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s10545-016-9986-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309197PMC
March 2017

Choline supplementation alters some amino acid concentrations with no change in homocysteine in children with cystic fibrosis and pancreatic insufficiency.

Nutr Res 2016 May 29;36(5):418-29. Epub 2015 Dec 29.

Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nutres.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841899PMC
May 2016

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

JIMD Rep 2016 27;30:33-37. Epub 2016 Feb 27.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2016_538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110442PMC
February 2016

Accumulation of 3-hydroxytetradecenoic acid: Cause or corollary of glucolipotoxic impairment of pancreatic β-cell bioenergetics?

Mol Metab 2015 Dec 8;4(12):926-39. Epub 2015 Oct 8.

Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, United States; Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, United States.

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http://dx.doi.org/10.1016/j.molmet.2015.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731732PMC
December 2015

Deletion of Cyclophilin D Impairs β-Oxidation and Promotes Glucose Metabolism.

Sci Rep 2015 Oct 30;5:15981. Epub 2015 Oct 30.

Prostate Cancer Discovery and Development Program, Tumor Microenvironment and Metastasis Program, The Wistar Institute, Philadelphia, PA 19104.

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http://dx.doi.org/10.1038/srep15981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626838PMC
October 2015

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.

Data Brief 2015 Jun 7;3:34-9. Epub 2015 Feb 7.

University of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USA.

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http://dx.doi.org/10.1016/j.dib.2015.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509990PMC
June 2015

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
June 2015

Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

J Biol Chem 2015 Apr 3;290(16):10486-94. Epub 2015 Mar 3.

From the Division of Neonatology, Department of Pediatrics Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania 19104,

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http://dx.doi.org/10.1074/jbc.M114.635102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400356PMC
April 2015

Comparative metabolomics in vegans and omnivores reveal constraints on diet-dependent gut microbiota metabolite production.

Gut 2016 Jan 26;65(1):63-72. Epub 2014 Nov 26.

Division of Gastroenterology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA Departments of Biostatistics & Epidemiology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1136/gutjnl-2014-308209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583329PMC
January 2016

Newborn screening for metabolic diseases: saving children's lives and improving outcomes.

Clin Biochem 2014 Jun 2;47(9):693-4. Epub 2014 Jun 2.

Department of Pathology & Laboratory Medicine Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2014.05.010DOI Listing
June 2014

Novel biomarkers for diagnosing and understanding pathophysiology of metabolic diseases.

Clin Biochem 2014 Jun 19;47(9):706-7. Epub 2014 May 19.

Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Metabolic Disease Laboratory, Children's Hospital of Philadelphia, 5NW58, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2014.05.019DOI Listing
June 2014

An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency.

J Chromatogr B Analyt Technol Biomed Life Sci 2014 May 1;959:5-9. Epub 2014 Apr 1.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jchromb.2014.03.029DOI Listing
May 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

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Mol Genet Metab 2014 Mar 27;111(3):331-341. Epub 2013 Dec 27.

Division of Human Genetics, The Children's Hospital of Philadelphia, and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130042
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http://dx.doi.org/10.1016/j.ymgme.2013.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947636PMC
March 2014

Discovery of siRNA lipid nanoparticles to transfect suspension leukemia cells and provide in vivo delivery capability.

Mol Ther 2014 Feb 3;22(2):359-370. Epub 2013 Sep 3.

Discovery Oncology, Hoffmann-La Roche Inc., Nutley, New Jersey, USA; Current Addresses: Early Discovery, AbbVie Inc., North Chicago, Illinois, USA (W.H.); Monsanto, Davis, California, USA (M.J.B.); Discovery Oncology, Celgene, San Diego, California, USA (J.F.B.). Electronic address:

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http://dx.doi.org/10.1038/mt.2013.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916034PMC
February 2014

The neuronal ceroid-lipofuscinoses.

Dev Disabil Res Rev 2013 ;17(3):254-9

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ddrr.1118DOI Listing
March 2014

Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.

PLoS Genet 2013 Jun 13;9(6):e1003563. Epub 2013 Jun 13.

Department of Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1371/journal.pgen.1003563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681725PMC
June 2013

The expansion of biomarker measurement for metabolic disease diagnosis.

Ann Clin Biochem 2013 Jul 17;50(Pt 4):386-7. Epub 2013 Jun 17.

Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1177/0004563213493541DOI Listing
July 2013

Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease).

Biochem Biophys Res Commun 2013 Jul 13;436(4):645-9. Epub 2013 Jun 13.

Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0006291X1300965
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http://dx.doi.org/10.1016/j.bbrc.2013.04.113DOI Listing
July 2013

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects.

Mol Genet Metab 2012 Dec 18;107(4):679-83. Epub 2012 Oct 18.

Division of Endocrinology, Department of Pediatrics, Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600647PMC
December 2012

Treatment of a methylmalonyl-CoA mutase stopcodon mutation.

Biochem Biophys Res Commun 2012 Nov 4;427(4):753-7. Epub 2012 Oct 4.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne Department of Paediatrics, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.bbrc.2012.09.133DOI Listing
November 2012

Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition.

Pediatr Dev Pathol 2012 Sep-Oct;15(5):368-74. Epub 2012 Jul 2.

Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://journals.sagepub.com/doi/10.2350/12-05-1198-OA.1
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http://dx.doi.org/10.2350/12-05-1198-OA.1DOI Listing
April 2013

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.

Mol Genet Metab 2012 Jul 13;106(3):277-80. Epub 2012 Apr 13.

Newborn Screening Unit, National Institute of Health, Porto, Portugal.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.005DOI Listing
July 2012

Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration.

Nat Med 2012 Jun;18(6):934-42

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/nm.2744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411870PMC
June 2012

Flow injection tandem mass spectrometric measurement of ceramides of multiple chain lengths in biological samples.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Feb 18;883-884:136-40. Epub 2011 Nov 18.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.

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http://linkinghub.elsevier.com/retrieve/pii/S157002321100738
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http://dx.doi.org/10.1016/j.jchromb.2011.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491661PMC
February 2012

Future directions in metabolic disease testing.

Clin Biochem 2011 May;44(7):469-470

University of Pennsylvania, 1200 Main St West, Philadephia, PA 19104 USA Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, 5NW58, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2011.03.013DOI Listing
May 2011

Newborn screening for metabolic disorders: how are we doing, and where are we going?

Clin Chem 2012 Feb 24;58(2):324-31. Epub 2011 Aug 24.

Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2011.171215DOI Listing
February 2012

Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.

J Biol Chem 2011 Sep 3;286(39):34164-74. Epub 2011 Aug 3.

Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M111.268599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190766PMC
September 2011

Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry.

Biochim Biophys Acta 2011 Nov 30;1811(11):657-62. Epub 2011 Jun 30.

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.

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http://dx.doi.org/10.1016/j.bbalip.2011.06.026DOI Listing
November 2011

Measurement of plasma amino acids by Ultraperformance® Liquid Chromatography.

Clin Chem Lab Med 2011 Jul;49(7):1177-85

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1515/CCLM.2011.200DOI Listing
July 2011

Emergency peripartum hysterectomy: a 10-year review at the Royal Hospital for Women, Sydney.

Aust N Z J Obstet Gynaecol 2011 Jun 28;51(3):210-5. Epub 2011 Jan 28.

The School of Women's and Children's Health, University of New South Wales Royal Hospital for Women, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2010.01278.xDOI Listing
June 2011

Commentary.

Clin Chem 2011 Apr;57(4):549-50

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2010.160341DOI Listing
April 2011

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

J Inherit Metab Dis 2011 Jun 24;34(3):835-42. Epub 2011 Feb 24.

Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

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http://dx.doi.org/10.1007/s10545-011-9287-7DOI Listing
June 2011

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.

J Inherit Metab Dis 2011 Apr 21;34(2):443-7. Epub 2011 Jan 21.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-010-9265-5DOI Listing
April 2011

Commentary.

Clin Chem 2010 Nov;56(11):1669-70

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2010.155143DOI Listing
November 2010

Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.

Biochim Biophys Acta 2011 Feb 7;1810(2):186-91. Epub 2010 Oct 7.

Department of Pathology and Laboratory Medicine, Division of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.bbagen.2010.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109357PMC
February 2011

Birefringence and DNA condensation of liquid crystalline chromosomes.

Eukaryot Cell 2010 Oct 16;9(10):1577-87. Epub 2010 Apr 16.

Hong Kong University of Science and Technology, Kowloon, Hong Kong.

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http://dx.doi.org/10.1128/EC.00026-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950428PMC
October 2010

Galactosemia diagnosis gets an upgrade.

Clin Chem 2010 May 18;56(5):690-2. Epub 2010 Mar 18.

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http://dx.doi.org/10.1373/clinchem.2010.145359DOI Listing
May 2010

Do women's perceptions of care at the time of unexplained stillbirth influence their wishes for management in subsequent pregnancy? An Internet-based empirical study.

J Obstet Gynaecol Res 2010 Feb;36(1):108-14

Australian National University Medical School, Canberra, Australian Capital Territory, Australia.

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http://dx.doi.org/10.1111/j.1447-0756.2009.01113.xDOI Listing
February 2010

Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.

Methods Mol Biol 2010 ;603:445-51

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_43DOI Listing
April 2010

Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry.

Methods Mol Biol 2010 ;603:423-31

Department of Pathology, University of Texas Southwestern Medical Center and Children's Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_41DOI Listing
April 2010

Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.

Methods Mol Biol 2010 ;603:365-70

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_35DOI Listing
April 2010

3-Hydroxy-fatty acid analysis by gas chromatography-mass spectrometry.

Methods Mol Biol 2010 ;603:229-43

Department of Pathology, University of Texas Southwestern Medical Center and Children's Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_21DOI Listing
April 2010

Conservative management of clinically diagnosed placenta accreta following vaginal delivery.

Aust N Z J Obstet Gynaecol 2009 Dec;49(6):647-9

University of New South Wales, Royal Hospital for Women, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2009.01090.xDOI Listing
December 2009

Women's expectations of management in their next pregnancy after an unexplained stillbirth: an Internet-based empirical study.

Aust N Z J Obstet Gynaecol 2009 Dec;49(6):642-6

Australian National University Medical School, Canberra, Australian Capital Territory, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2009.01092.xDOI Listing
December 2009

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

J Pediatr 2010 Mar 8;156(3):492-4. Epub 2010 Jan 8.

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

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http://dx.doi.org/10.1016/j.jpeds.2009.10.031DOI Listing
March 2010

Basic considerations in the use of coded excitation for color flow imaging applications.

IEEE Trans Ultrason Ferroelectr Freq Control 2009 Apr;56(4):727-37

Department of Medical Physics, Edinburgh University, Edinburgh, UK.

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http://dx.doi.org/10.1109/TUFFC.2009.1095DOI Listing
April 2009

The use of Deconvolution Reporting Software and backflush improves the speed and accuracy of data processing for urinary organic acid analysis.

Clin Chim Acta 2009 Jul 16;405(1-2):53-9. Epub 2009 Apr 16.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.cca.2009.04.005DOI Listing
July 2009

Screening for MCAD deficiency in newborns.

BMJ 2009 Mar 12;338:b971. Epub 2009 Mar 12.

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http://dx.doi.org/10.1136/bmj.b971DOI Listing
March 2009

Short-chain acyl-coenzyme A dehydrogenase deficiency.

Mol Genet Metab 2008 Dec 5;95(4):195-200. Epub 2008 Nov 5.

Division of Human and Molecular Genetics, Children's Hospital of Philadelphia, Abramson Research Center, Room 1002, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720545PMC
December 2008

Increased C3-carnitine in a healthy premature infant.

Clin Chem 2008 Nov;54(11):1914-7; discussion 1917-8

Department of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2008.107581DOI Listing
November 2008

The function of CLN3P, the Batten disease protein.

Mol Genet Metab 2008 Mar;93(3):269-74

Department of Pathology, University of Texas Southwestern Medical Center and Children's Medical Center, MC 9073, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.001DOI Listing
March 2008

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Mol Genet Metab 2008 Aug 11;94(4):422-7. Epub 2008 Jun 11.

Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.002DOI Listing
August 2008

Untargeted metabolomic analysis hits the target.

Clin Chem 2007 Dec;53(12):2037-9

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http://dx.doi.org/10.1373/clinchem.2007.096438DOI Listing
December 2007

Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.

Clin Chem 2008 Feb 21;54(2):256-63. Epub 2007 Dec 21.

The Children's Hospital of Philadelphia, Division of Endocrinology, Philadelphia, PA, USA.

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February 2008

Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.

Biochem Biophys Res Commun 2008 Mar 26;368(1):6-11. Epub 2007 Nov 26.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.bbrc.2007.10.188DOI Listing
March 2008

Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease.

Mol Genet Metab 2008 Jan 24;93(1):89-91. Epub 2007 Oct 24.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.005DOI Listing
January 2008

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.

Curr Mol Med 2007 Sep;7(6):603-8

Department of Pathology, UT Southwestern Medical Center and Children's Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.2174/156652407781695729DOI Listing
September 2007

Urinary catheter stent placement for treatment of cervical stenosis.

Aust N Z J Obstet Gynaecol 2007 Oct;47(5):406-9

Royal Hospital for Women, Sydney, and University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2007.00766.xDOI Listing
October 2007

Assays of fatty acid beta-oxidation activity.

Methods Cell Biol 2007 ;80:179-97

Department of Pathology and Laboratory Medicine, University of Pennsylvania, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/S0091-679X(06)80009-9DOI Listing
June 2007

Methods for transient assay of gene function in floral tissues.

Plant Methods 2007 Jan 8;3. Epub 2007 Jan 8.

New Zealand Institute for Crop & Food Research Limited, Private Bag 11600, Palmerston North, New Zealand.

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http://dx.doi.org/10.1186/1746-4811-3-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781449PMC
January 2007

Error analysis of ultrasonic tissue doppler velocity estimation techniques for quantification of velocity and strain.

Ultrasound Med Biol 2007 Jan;33(1):74-81

School of Clinical Sciences and Community Health, Medical and Radiological Sciences, Medical Physics, The Chancellor's Building, 49 Little France Crescent, Edinburgh, EH16 4SB UK.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2006.07.040DOI Listing
January 2007

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

Ann Neurol 2006 Nov;60(5):570-7

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1002/ana.20975DOI Listing
November 2006

Power doppler ultrasound assessment of the relationship between age and ovarian perifollicular blood flow in women undergoing in vitro fertilization treatment.

J Assist Reprod Genet 2006 Sep-Oct;23(9-10):359-65. Epub 2006 Oct 11.

School of Women's and Children's Health, Division of Obstetrics and Gynaecology, Level 1 Women's Health Institute, Royal Hospital for Women, Randwick, Sydney, NSW, Australia, 2031.

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http://dx.doi.org/10.1007/s10815-006-9067-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3455106PMC
January 2007

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Mol Genet Metab 2006 Dec 22;89(4):323-31. Epub 2006 Sep 22.

Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.08.004DOI Listing
December 2006

Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation.

Clin Chem Lab Med 2006 ;44(9):1090-1

Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine and the Hospital of the University of Pennsylvania, Philadelphia, 19104, USA.

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http://dx.doi.org/10.1515/CCLM.2006.196DOI Listing
November 2006

The value of the metabolic autopsy in the pediatric hospital setting.

J Pediatr 2006 Jun;148(6):779-83

Department of Pathology, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.01.040DOI Listing
June 2006