Publications by authors named "Douglas S Kerr"

24Publications

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

Improved cardiac outcomes with combined atenolol and diazepam intervention in seizure.

Epilepsia 2018 04 7;59(4):854-865. Epub 2018 Mar 7.

Department of Pharmacology and Toxicology, University of Otago School of Medical Sciences, Dunedin, New Zealand.

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http://dx.doi.org/10.1111/epi.14039DOI Listing
April 2018

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 11 8;122(3):61-66. Epub 2017 Sep 8.

Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Department of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA; Center for Human Genetics, UHCMC, Cleveland, OH, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173049
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http://dx.doi.org/10.1016/j.ymgme.2017.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722699PMC
November 2017

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 04 2;120(4):342-349. Epub 2017 Feb 2.

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

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http://dx.doi.org/10.1016/j.ymgme.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382105PMC
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

Review of clinical trials for mitochondrial disorders: 1997-2012.

Authors:
Douglas S Kerr

Neurotherapeutics 2013 Apr;10(2):307-19

Center for Inherited Disorders of Energy Metabolism, Case Western Reserve University, University Hospitals Case Medical Center, 11100 Euclid Avenue, Cleveland, OH 44106-6004, USA.

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http://dx.doi.org/10.1007/s13311-013-0176-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625388PMC
April 2013

High prevalence of overweight and obesity in females with phenylketonuria.

Mol Genet Metab 2012 Sep 16;107(1-2):43-8. Epub 2012 Jul 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.006DOI Listing
September 2012

Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.

Mol Genet Metab 2010 Sep 11;101(1):87-9. Epub 2010 Jun 11.

University of Michigan Medical School, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.008DOI Listing
September 2010

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Mol Genet Metab 2010 Jul 14;100(3):296-9. Epub 2010 Apr 14.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.004DOI Listing
July 2010

Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade.

Authors:
Douglas S Kerr

Mol Genet Metab 2010 Mar 26;99(3):246-55. Epub 2009 Nov 26.

Department of Pediatrics,Center for Inherited Disorders of Metabolism, University Hospitals Case Medical Center, Rainbow Babies and Childrens Hospital, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106-6004, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920900487
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http://dx.doi.org/10.1016/j.ymgme.2009.11.005DOI Listing
March 2010

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Mol Genet Metab 2008 Aug 17;94(4):397-402. Epub 2008 Jun 17.

Children's National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N.W., Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640937PMC
August 2008

A nonsense mutation of PEPD in four Amish children with prolidase deficiency.

Am J Med Genet A 2006 Mar;140(6):580-5

Das Deutsch Center (DDC) Clinic for Special Needs Children, Middlefield, Ohio 44062, USA.

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http://dx.doi.org/10.1002/ajmg.a.31134DOI Listing
March 2006

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Mol Genet Metab 2006 Feb 18;87(2):162-8. Epub 2006 Jan 18.

Center for Inherited Disorders of Energy Metabolism, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.09.023DOI Listing
February 2006

Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies.

Mitochondrion 2004 Sep;4(5-6):377-85

Department of Anatomy, Center for Inherited Disorders of Energy Metabolism, Case Western Reserve University, Rainbow Babies and Childrens Hospital, 11100 Euclid Avenue, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.mito.2004.07.004DOI Listing
September 2004

Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.

Ann Neurol 2004 Feb;55(2):291-4

Department of Pediatrics, Case Western Reserve University School of Medicine and Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1002/ana.10849DOI Listing
February 2004

Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors.

Mol Ther 2002 Sep;6(3):394-9

Department of Pediatrics, The General Clinical Research Center, University of Florida, Gainesville, Florida 32610, USA.

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http://dx.doi.org/10.1006/mthe.2002.0683DOI Listing
September 2002