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Inborn errors of carbohydrate metabolism / Evolutionary biology / Classical genetics / Population genetics / Galactosemia / Irish Travellers / Galactose—1-phosphate uridylyltransferase / Galactose-1-phosphate uridylyltransferase deficiency / Mutation / Genetics / Biology / Philosophy of biology


Document Date: 2009-12-14 09:06:23

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City

Dublin / Bristol / New York / Belfast / Los Angeles / Duarte / /

Company

McGraw-Hill Inc / GenBank / Travellers / Kwitek AE / Pearson / Promega Corp. / non-Traveller / Traveller / Pharmacia / /

Continent

Europe / /

Country

Germany / Sweden / Irish Republic / Austria / United States / United Kingdom / Ireland / /

Currency

USD / /

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Event

Product Issues / /

Facility

Southmead Hospital / The Royal College of Surgeons / Institute of Irish Studies / Royal College of Surgeons / University of Bristol / Children’s Hospital / The Children’s Hospital / Trinity College / Temple Street / Queen’s University of Belfast / /

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IndustryTerm

patient / founder / control / family groups / carrier frequency / carrier screening / endogamous / restriction site / distinct / /

MedicalCondition

JE / Duarte galactosemia allele / ovarian dysfunction / uridyltransferase deficiency / cirrhosis / galactosemia / galactosemia mutations / human genetic disease / Phenylketonuria / variant galactosemia / disease / galactosemia and other galactose metabolic defects / controversial disorder / untreated infants E. coli sepsis / cognitive impairment / vomiting / inherited disease / PKU / deficiency / cataract / Disorders / /

NaturalFeature

Saguenay / /

Organization

Department of Clinical Chemistry / Queen’s University of Belfast / Child Health Foundation / Department of Pathology / Medical School / Institute of Irish Studies / Children’s Hospital / Department of Genetics / Pathology and 2Metabolic Unit / Health Research Board of Ireland / Department of Biochemistry / University of Bristol / Southmead Hospital / Research Committee / Central Statistics Office / Royal College of Surgeons in Ireland / Trinity College / Dublin / Ethics Committee / /

Person

Peter McWilliam / David T Croke / Arch Dis / Linda Tyfield / Patrick Cunningham / /

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Position

Professor / /

Product

galactosaemia / activity / galactosaemic patient cohort / /

ProgrammingLanguage

RC / /

ProvinceOrState

Quebec / Massachusetts / Arkansas / /

PublishedMedium

European Journal of Human Genetics / /

Region

western Europe / /

Technology

Genomics / Cloning / genotyping / DNA sequencing / http / genotype / gel electrophoresis / /

URL

www.ich.bris.ac.uk/galtdb / http /

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