Publications by authors named "Deborah Marsden"

26Publications

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

Mol Genet Metab 2020 05 19;130(1):7-15. Epub 2020 Feb 19.

Ultragenyx Pharmaceutical Inc., Novato, CA, United States of America.

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http://dx.doi.org/10.1016/j.ymgme.2020.02.006DOI Listing
May 2020

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

JIMD Rep 2018 5;40:47-53. Epub 2017 Oct 5.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2017_58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122013PMC
October 2017

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Clin Chem 2016 11 14;62(11):1430-1438. Epub 2016 Sep 14.

Head of the Division of Metabolic Diseases, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2016.258459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545176PMC
November 2016

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

Newborn screening of lysosomal storage disorders.

Clin Chem 2010 Jul 20;56(7):1071-9. Epub 2010 May 20.

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

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2009.141622
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http://dx.doi.org/10.1373/clinchem.2009.141622DOI Listing
July 2010

Newborn screening.

Crit Rev Clin Lab Sci 2009 ;46(2):55-82

New England Newborn Screening Program, University of Massachusetts, Jamaica Plains, Boston, MA, USA.

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http://dx.doi.org/10.1080/10408360802485305DOI Listing
April 2009

Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.

Mol Genet Metab 2009 Mar 9;96(3):81-2. Epub 2008 Dec 9.

Department of Medicine, Division of Genetics and Metabolism, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.010DOI Listing
March 2009

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

Pediatrics 2008 May;121(5):e1108-14

New England Newborn Screening Program, University of Massachusetts Medical School, 305 South St, Jamaica Plain, MA 02130, USA.

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http://dx.doi.org/10.1542/peds.2007-1993DOI Listing
May 2008

Newborn screening for metabolic disorders.

J Pediatr 2006 May;148(5):577-584

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

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http://dx.doi.org/10.1016/j.jpeds.2005.12.021DOI Listing
May 2006

Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.

Arch Ophthalmol 2005 Aug;123(8):1143-6

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

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http://dx.doi.org/10.1001/archopht.123.8.1143DOI Listing
August 2005

Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.

Authors:
Deborah Marsden

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:111-4

Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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July 2005

Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study.

Authors:
Deborah Marsden

Genet Med 2005 Feb;7(2):147-50

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

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http://dx.doi.org/10.1097/01.gim.0000154301.76619.5cDOI Listing
February 2005

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

J Pediatr Psychol 2004 Oct;29(7):565-70

Children's Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1093/jpepsy/jsh058DOI Listing
October 2004

Expanded newborn screening.

Pediatr Ann 2003 Aug;32(8):509-15

Children's Hospital Boston, Harvard Medical School Genetics Training Program, Boston, MA, USA.

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http://dx.doi.org/10.3928/0090-4481-20030801-08DOI Listing
August 2003

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

J Pediatr 2003 Mar;142(3):349-52

Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA.

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http://dx.doi.org/10.1067/mpd.2003.97DOI Listing
March 2003