Organic Acidurias - Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984) (Paperback, Softcover reprint of the original 1st ed. 1984)

The first symposium of the Society for the Study ofInborn valuable overview of advances in the application of Errors of Metabolism (SSIEM) on the organic acid urias chemical analysis of amniotic fluid to their early prenatal was held in Leeds in 1971 and published by the Society in diagnosis. The continuing complexity of diagnosis, 1972 (the 9th Annual SSIEM Symposium). Although biochemistry and aetiology ofthe dicarboxylic acid urias relatively few of these disorders were recognized at that has been admirably reduced by the papers from Dr time, the symposium was prompted by the then recent Gregersen and Dr Goodman, with Dr Goodman clearly identification between 1966 and 1970 of isovaleric identifying the primary defect in the polycystic variant of acidaemia, methylmalonic aciduria, propionic aci- multiple acyl CoA dehydrogenase deficiency ("glutaric daemia, pyroglutamic aciduria and 3-methylcrotonyl- aciduria type II") as a deficiency of electron transfer glycinuria. Identification and diagnosis of diseases of this flavoprotein (ETF) dehydrogenase. Dr Engel's paper kind had greatly improved primarily through the also provides a useful overview from currently available application of gas chromatography and mass spectro- data of the place of L-carnitine in the organic acid urias, metry to medicine, although the complexity of the an area in which rapid developments are occurring. The underlying biochemistry and the genetic heterogeneity of emerging understanding of the aetiologies of the the organic acidurias was not then realised.

General

Imprint:	Springer
Country of origin:	Netherlands
Release date:	2012
First published:	1984
Editors:	G.M. Addison • R.A. Chalmers • P. Divry • R. Angus Harkness • R.J. Pollitt
Dimensions:	297 x 210 x 9mm (L x W x T)
Format:	Paperback
Pages:	166
Edition:	Softcover reprint of the original 1st ed. 1984
ISBN-13:	978-9401089753
Categories:	Books > Medicine > Pre-clinical medicine: basic sciences > General Books > Medicine > Clinical & internal medicine > Paediatric medicine > General Books > Science & Mathematics > Biology, life sciences > Biochemistry > General
LSN:	9401089752
Barcode:	9789401089753

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