Andrea M Atherton

Andrea M Atherton

UNVERIFIED PROFILE

Are you Andrea M Atherton?   Register this Author

Register author
Andrea M Atherton

Andrea M Atherton

Publications by authors named "Andrea M Atherton"

Are you Andrea M Atherton?   Register this Author

9Publications

340Reads

38Profile Views

The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening.

Pediatrics 2017 Jul;140(Suppl 1):S46-S50

Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, New Jersey

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
Publisher Site
http://dx.doi.org/10.1542/peds.2016-0280FDOI Listing
July 2017

HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.

Neurol Genet 2017 Jun 15;3(3):e151. Epub 2017 May 15.

Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., D.B.-G., P.Y., Y.H., P.M., D.E., A.R.F., C.G.B.), and National Eye Institute (W.M.Z.), National Institutes of Health, Bethesda, MD; Children's National Medical Center (D.B.-G.), Washington, DC; Department of Neurology (A.H.), The Johns Hopkins University School of Medicine, Baltimore, MD; Children's Mercy Hospital (A.M.A., A.C.M.), Kansas City, MO; and Department of Neurology (M.D.), University of Kansas Medical Center, Kansas City, KS.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432370PMC
June 2017

Fabry disease in infancy and early childhood: a systematic literature review.

Genet Med 2015 May 18;17(5):323-30. Epub 2014 Sep 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.120DOI Listing
May 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

J Inherit Metab Dis 2012 May 24;35(3):437-42. Epub 2011 Aug 24.

Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9381-xDOI Listing
May 2012