Sara Cathey

Sara Cathey

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Sara Cathey

Sara Cathey

Publications by authors named "Sara Cathey"

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23Publications

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Intellectual functioning in alpha-mannosidosis.

JIMD Rep 2019 Nov 21;50(1):44-49. Epub 2019 Sep 21.

Greenwood Genetic Center Greenwood South Carolina.

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http://dx.doi.org/10.1002/jmd2.12073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974PMC
November 2019

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Clin Chem 2018 12 10;64(12):1772-1779. Epub 2018 Sep 10.

Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC;

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http://dx.doi.org/10.1373/clinchem.2018.289645DOI Listing
December 2018

Testing the keystone community concept: effects of landscape, patch removal, and environment on metacommunity structure.

Ecology 2018 Jan 7;99(1):57-67. Epub 2017 Dec 7.

Department of Integrative Biology, University of Texas at Austin, Austin, Texas, 78712, USA.

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http://dx.doi.org/10.1002/ecy.2041DOI Listing
January 2018

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.

Pediatr Dermatol 2017 May;34(3):352-355

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.

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http://dx.doi.org/10.1111/pde.13119DOI Listing
May 2017

Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis.

Pediatr Neurol 2016 Sep 18;62:71-2. Epub 2016 Apr 18.

Greenwood Genetic Center, North Charleston, South Carolina.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.04.001DOI Listing
September 2016

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.

Am J Med Genet A 2014 Nov 13;164A(11):2887-91. Epub 2014 Aug 13.

College of Medicine, Medical University of South Carolina, Charleston, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36708DOI Listing
November 2014

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

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http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
May 2014

Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.

Arch Pathol Lab Med 2011 Apr;135(4):503-10

Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.

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http://dx.doi.org/10.1043/2010-0236-CR.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188553PMC
April 2011

The natural history and osteodystrophy of mucolipidosis types II and III.

J Paediatr Child Health 2010 Jun 29;46(6):316-22. Epub 2010 Mar 29.

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2010.01715.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188554PMC
June 2010