Sara S Cathey

Sara S Cathey

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Sara S Cathey

Sara S Cathey

Publications by authors named "Sara S Cathey"

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15Publications

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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

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

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