Use this URL to cite or link to this record in EThOS: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.736814
Title: Fifty years in inborn errors of metabolism : from urine ferric chloride to mass spectrometry and gene analysis
Author: Buist, Neil R. M.
ISNI:       0000 0004 6500 8556
Awarding Body: University of St Andrews
Current Institution: University of St Andrews
Date of Award: 2014
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Abstract:
Prefatory 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 summary.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID: uk.bl.ethos.736814  DOI: Not available
Keywords: RC627.8B8 ; Inborn errors of Metabolism--Genetic aspects
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