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Hyperinsulinemic hypoglycemia / Congenital hyperinsulinism / Loss of heterozygosity / Kir6.2 / Hyperinsulinism / Uniparental disomy / Nesidioblastosis / Beckwith–Wiedemann syndrome / Non-Mendelian inheritance / Biology / Endocrine system / Genetics


BRIEF REPORT An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism Khalid Hussain,1 Sarah E. Flanagan,2 Virpi V. Smith,3 Michael Ashworth,3 Michael Day,4
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City

Exeter / Kimbolton / Amsterdam / /

Company

Devon & Exeter NHS Foundation Trust / K. HUSSAIN AND ASSOCIATES / Mutation Surveyor Software / Wellcome Trust / Crane / /

Country

Netherlands / United Kingdom / /

Currency

pence / /

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Facility

University College London / Institute of Child Health / Great Ormond Street Hospital / Barrack Road / State College / Temple IK / /

IndustryTerm

analysis software / /

MedicalCondition

focal and diffuse disease / hyperinsulinemic hypoglycemia / CONGENITAL HYPERINSULINISM FIG / Beckwith-Wiedemann syndrome / atypical diffuse disease resulting / focal DIABETES / severe and persistent hypoglycemia / ongenital hyperinsulinism / occasion hypoglycemia / sulphonylurea DIABETES / deafness / autosomal recessive disorder / diabetes syndrome / MS / persistent hyperinsulinemic hypoglycemia / hypoglycemia / congenital overgrowth syndrome / hyperinsulinism / again developed hypoglycemia / disease / Infantile hyperinsulinism / heterogeneous syndrome / permanent neonatal diabetes / familial hyperinsulinism / sporadic persistent hyperinsulinemic hypoglycemia / Diabetes / Focal hyperinsulinism / Congenital hyperinsulinism / diffuse disease / focal pancreatic disease / focal disease / Typical diffuse disease / nesidioblastosis / familial persistent hyperinsulinemic hypoglycemia / syndrome / renal cysts / consis261 ABCC8 MUTATIONS AND CONGENITAL HYPERINSULINISM FIG / /

MedicalTreatment

Surgery / /

NaturalFeature

Langerhans / KATP channel / /

Organization

University College London / London / State College / American Diabetes Association / Peninsula Medical School / Great Ormond Street Hospital / Research & Development Directorate / Institute of Child Health / NHS / /

Person

Arch Dis / Andrew Read / Julia Rankin / Sian Ellard / Arch Dis Child Fetal Neonatal / Lorna Harries / Graham Wilkins / Sequencing Kit / Abigail Jelfs / /

Position

head / Professor / Mathew PM / Reboul MP / Thomas PM / Big Dye Terminator Cycler / /

Product

glucagon / diazoxide / Travert / /

ProvinceOrState

Warrington / South Dakota / /

PublishedMedium

Clinical Science / /

RadioStation

Ashcroft FM / Patch AM / /

Technology

tomography / hybridization / genotype / recombination / /

URL

http /

SocialTag