Publications by authors named "Kara E Boodhansingh"

9Publications

Functional and Metabolomic Consequences of K Channel Inactivation in Human Islets.

Diabetes 2017 07 25;66(7):1901-1913. Epub 2017 Apr 25.

Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

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http://dx.doi.org/10.2337/db17-0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482088PMC
July 2017

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.

Pediatr Diabetes 2017 Dec 6;18(8):911-916. Epub 2017 Feb 6.

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/pedi.12507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545170PMC
December 2017

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

J Biol Chem 2016 Oct 29;291(42):21971-21983. Epub 2016 Aug 29.

From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239,

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http://dx.doi.org/10.1074/jbc.M116.749366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063981PMC
October 2016

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.

J Clin Endocrinol Metab 2016 Mar 12;101(3):914-22. Epub 2016 Jan 12.

Department of Pathology and Laboratory Medicine (T.R.B., A.R.H., L.C., E.D.R.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399; Department of Pathology (T.R.B., L.C., E.D.R.), The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104; Division of Endocrinology and Diabetes (K.G., K.E.B., C.M., S.B., C.A.S.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399; Department of Pathology (L.M.E.), Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611; Department of Surgery (N.S.A.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399; and Departments of Surgery (N.S.A.), Genetics (A.G.), and Pediatrics (C.A.S.), The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.

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http://dx.doi.org/10.1210/jc.2015-2914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803165PMC
March 2016

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Turk J Pediatr 2016 ;58(5):541-544

Acıbadem University Faculty of Medicine, Division of Pediatrics Endocinology, İstanbul, Turkey.

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http://dx.doi.org/10.24953/turkjped.2016.05.014DOI Listing
September 2017

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

J Med Genet 2016 Jan 6;53(1):53-61. Epub 2015 Nov 6.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740975PMC
January 2016