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dc.contributor.authorBuist, Neil R. M.
dc.coverage.spatial396 p.en_US
dc.descriptionElectronic version does not contain associated previously published materialen
dc.description.abstractPrefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents: 1. Introduction -- 2. Background information about inborn errors of metabolism -- 3. Lessons from phenylketonuria [PKU] -- 4. My role in developing new medical foods -- 5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants -- 6. My role in galactosaemia research -- 7. My start in the metabolic world - screening tests in urine -- 8. My experiences in disaster relief -- 9. My first appearance in the medical literature -- 10. A selection of rare and unusual diseases -- 11. Tyrosinaemia type II; tyrosine aminotransferase deficiency -- 12. Iminodipeptiduria due to prolidase deficiency -- 13. Citrullinaemia -- 14. Rippling muscle disease -- 15. A fatal X-linked disorder of diarrhoea, diabetes mellitus and immune dysregulation -- 16. Infantile Refsum disease -- 17. Hereditary hypocalcuric hypercalcaemia -- 18. Carbohydrate deficient glycoprotein disease type IAPKU -- 19. Thiamine-responsive diabetes and deafness -- 20. Folinic acid-responsive seizures: a false alarm -- 21. S-adenosylmethionine hydrolase deficiency -- 22. Deficiency of complex III of the respiratory chain -- 23. Current research: quantitation of infant sucking behaviour -- 24. Discussion and summaryen_US
dc.publisherUniversity of St Andrews
dc.subject.lcshMetabolism, Inborn errors ofen
dc.subject.lcshMetabolism, Inborn errors of--Genetic aspectsen
dc.titleFifty years in inborn errors of metabolism : from urine ferric chloride to mass spectrometry and gene analysisen_US
dc.type.qualificationnameMD Doctor of Medicineen_US
dc.publisher.institutionThe University of St Andrewsen_US

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