Publications by authors named "Nancy E Braverman"

32Publications

Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism.

Biochim Biophys Acta Rev Cancer 2018 08 6;1870(1):103-121. Epub 2018 Aug 6.

Lady Davis Institute, McGill University, Jewish General Hospital, 3755 Chemin de la Côte-Sainte-Catherine, Montréal, QC H3T 1E2, Canada; Department of Oncology, McGill University, 5100 de Maisonneuve Blvd. West, Suite 720, Montréal H4A 3T2, QC, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0304419X183005
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http://dx.doi.org/10.1016/j.bbcan.2018.07.004DOI Listing
August 2018

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

J Pediatr Gastroenterol Nutr 2018 02;66(2):e57

Department of Pediatric Gastroenterology, Emma Children's hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000001763DOI Listing
February 2018

Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.

Immunity 2017 07;47(1):93-106.e7

Department of Cell Biology, University of Alberta, Edmonton, Alberta T6G 2H7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2017.06.016DOI Listing
July 2017

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2017 Jan 12;173(1):108-113. Epub 2016 Sep 12.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.37961DOI Listing
January 2017

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab Rep 2016 Jun 23;7:94-5. Epub 2016 May 23.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901166PMC
June 2016

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab 2016 Jan 24;117(1):33-7. Epub 2015 Nov 24.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153007
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http://dx.doi.org/10.1016/j.ymgme.2015.11.009DOI Listing
January 2016

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2016 Jan 26;170A(1):270-2. Epub 2015 Sep 26.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.37404DOI Listing
January 2016

Ether lipid deficiency does not cause neutropenia or leukopenia in mice and men.

Cell Metab 2015 May;21(5):650-1

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, 1090 Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885659PMC
May 2015

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

J Inherit Metab Dis 2015 Sep 8;38(5):839-46. Epub 2015 Jan 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s10545-014-9802-8
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http://dx.doi.org/10.1007/s10545-014-9802-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496322PMC
September 2015

Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.

Biochim Biophys Acta 2015 Feb 15;1851(2):117-28. Epub 2014 Nov 15.

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13881981140024
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http://dx.doi.org/10.1016/j.bbalip.2014.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331674PMC
February 2015

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Mol Genet Metab 2014 Apr 23;111(4):522-532. Epub 2014 Jan 23.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger, 707 N. Broadway, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901203PMC
April 2014

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Dev Disabil Res Rev 2013 ;17(3):187-96

Department of Human Genetics, McGill University, Quebec, Canada.

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http://dx.doi.org/10.1002/ddrr.1113DOI Listing
March 2014

Case 1: Recurrent acute liver dysfunction in a 19-month-old boy.

Paediatr Child Health 2012 May;17(5):247-8

Department of Medical Genetics, McGill University Health Centre, and Department of Human Genetics, McGill University.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381916PMC
http://dx.doi.org/10.1093/pch/17.5.247DOI Listing
May 2012

Functions of plasmalogen lipids in health and disease.

Biochim Biophys Acta 2012 Sep 22;1822(9):1442-52. Epub 2012 May 22.

Department of Human Genetics and Pediatrics, McGill University-Montreal Childrens Hospital Research Institute, Montreal, Canada.

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http://dx.doi.org/10.1016/j.bbadis.2012.05.008DOI Listing
September 2012

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Lipids Health Dis 2011 Oct 18;10:182. Epub 2011 Oct 18.

Dept, of Pharmacology, DeBusk College of Osteopathic Medicine, Lincoln Memorial University, 6965 Cumberland Gap Parkway, Harrogate, TN 37752, USA.

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http://dx.doi.org/10.1186/1476-511X-10-182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238230PMC
October 2011

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Am J Med Genet A 2011 Aug 7;155A(8):1987-90. Epub 2011 Jul 7.

Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34094DOI Listing
August 2011

Peroxisome biogenesis disorders.

Biochim Biophys Acta 2006 Dec 14;1763(12):1733-48. Epub 2006 Sep 14.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.bbamcr.2006.09.010DOI Listing
December 2006

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Pediatrics 2006 Aug 30;118(2):e514-21. Epub 2006 Jun 30.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children's Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1542/peds.2005-1307DOI Listing
August 2006

Characteristic MR imaging changes in severe hypermethioninemic states.

AJNR Am J Neuroradiol 2005 Nov-Dec;26(10):2705-6

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February 2006