Addison g m (53 Ergebnisse)
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Paperback. Zustand: Good. 152p black paperback, from a Cambridge college library, transparent film to cover, a clean copy Language: English.
Verlag: Government Printing Office, 1963
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In den WarenkorbZustand: Fair. 1963. Popular Edition. 191 pages. Pictorial dust jacket over green cloth. Black and white photographs throughout with colour frontispiece. Pages and photographs are lightly tanned throughout. Water staining to most pages, with some pages slightly stuck together. Creasing to some pages. Severe cracking to hinges ca…using boards to be loose. Boards have light shelf-wear with corner bumping. Slight crushing to spine ends. Unclipped jacket has light edgewear with tears and creasing. Water staining to both panels. Wear marks overall.
Verlag: Government Printing Office, 1959
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Cloth. Zustand: Very Good. Zustand des Schutzumschlags: No d/j as Published. Type: Book Proceedings of the 25th Annual Symposium of the SSIEM, Sheffield, UK, Sept. 1987. Combined supplements of Journal of inherited metabolic disease, Vol. II (1988). Embraces many of the major aspects of the study of inborn errors of metabolism.S…mall mark near spine on base of front board.278pp.
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Verlag: Government Printing Office
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In den WarenkorbZustand: Good. 1959. hardback. Fine in fine cloth covers, lacking dust wrapper. Covers showing some wear and age, remains a fine copy. . . . . Books ship from the US and Ireland.
Verlag: Griffith, Farran & Company, London
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In den WarenkorbHardback. The book is produced and printed by Ernest Nister Original pictorial colour card covers depicting a countryside scene Some browning to covers and spine Edges a little rubbed resulting in small loss of card cover All edges gilt A tight clean copy No pagination. G.H. Thompson, W.G. Addison, Harriet M. Bennet, Julius Luz,… Fred Hines, Robert Ellice Mack, A. Wilde Parsons, Lizzie Mack, Margaret Dicksee, Minnie Lawson, George Clausen, H. Bannerman, Agnes Pearce, and H. Austen (illustrator). book.
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Sprache: Englisch
Verlag: Elsevier Science B.V.,Excerpta Medica Medical Communications Division Amsterdam,, 1974
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24 x 16. 291 Seiten. Hardcover. Gut erhaltenes Exemplar. Sprache: Englisch Gewicht in Gramm: 759.
Verlag: Government Printing Office, Singapore, 1963
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In den WarenkorbZustand: Very Good. (viii), 191, col frontis, 300+ b/w photos. . HB. 4to, orig. cloth. Vg in worn d/w. Popular edition.
Verlag: Kluwer Academic Publishers, 1988., 1988
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In den WarenkorbZustand: Gebraucht / Used. Hardcover. Good. Xii,268pp. Name ticket on first free endpaper.
Verlag: Griffith, Farran & Company, London
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In den WarenkorbHardback. The book is produced and printed by Ernest Nister of Nuremberg Original pictorial colour card covers depicting a wintry scene Covers sunned and heavily browned Rubbing to edges and spine causing loss and scuffing Contents completely detached from boards and spine Contemporary ink inscription to ffep dated 1886 All edge…s gilt Incidences of spotting and browning throughout pp 30. L. Bernard Hall, G.H. Thompson, A. Wilde Parsons, Julius Luz, Robert Ellice Mack, A.M. Clausen, W.G. Addison, G.W. Harvey and George Clausen (illustrator). book.
Studies in Inherited Metabolic Disease: Lipoproteins Ethical Issues
Pollitt, R.J. (Editor) / Harkness, R. Angus (Editor) / Addison, G.M. (Editor)
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Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the Ssiem, Newcastle upon Tyne, September 1984
Addison, G. M. (Editor)/ Bartlett, K. (Editor)/ Harkness, R. Angus (Editor)/ Pollitt, R. J. (Editor)
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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)
Pollitt, R.J. (Editor) / Addison, G.M. (Editor) / Harkness, R. Angus (Editor) / Chalmers, R.A. (Editor) / Divry, P. (Editor)
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 16 (1993) contain the main lectures presented at the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Leuven, Belgium, 1992, which was… dedicated to `Inherited Metabolic Diseases and the Brain'. Topics discussed included: Inborn errors and brain fluids, neurotransmitter disorders, inborn errors and demyelination, and recent developments. Participants from many countries provided a state-of-the-art review which will be of interest to clinicians and research workers alike in many different disciplines.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the years, embrace many of the major aspects of the study of inborn errors of metabolism and can, parti…cularly with the Short Communications section, be used as a way into the literature on specific new topics. We hope that with judicious selection of material these supplements will continue to provide, as did the Society's earlier annual publications, a balanced record of the present state of the subject in all its facets, a record of interest to those working in allied fields as well as to the specialist. R. J. Pollitt G. M. Addison R. A. Harkness The papers listed below were also presented at the meeting. Scripts were not available by the time of publication. 1. Tangier disease and related disorders of apolipoprotein Al. G. Assmann, Munster. 2. Contribution to Ethics Symposium by M. E. Pembrey, London.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - 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.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - The 23rd Annual Symposium of the SSIEM: Liverpool.- to recombinant DNA.- Human biochemical genetics of enzyme proteins in the new age of molecular genetics.- Direct DNA analysis in family studies.- Application and limitations of direct DNA analysis i…n genetic prediction.- DNA analysis for ornithine transcarbamylase deficiency.- Molecular genetics of PKU.- Human DNA repair defects.- Molecular basis of ai-antitrypsin deficiency and its potential therapy by gene transfer.- Direct alteration of a gene in the human genome.- Diabetes mellitus, atherosclerosis, and the 5' flanking polymorphism of the human insulin gene.- Workshop on Screening for Congenital Adrenal Hyperplasia (steroid 21-hydroxylase deficiency).- Clinical aspects of congenital adrenal hyperplasia: early diagnosis and prognosis.- Biochemical aspects of congenital adrenal hyperplasia.- Large-Scale Pilot Studies.- Review of CAH screening programmes and the Scottish experience.- Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population.- Neonatal screening for congenital adrenal hyperplasia: a pilot study in France.- Existing Clinical Diagnoses.- Congenital adrenal hyperplasia in Birmingham: a retrospective analysis (1958-1985).- Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study.- Clinical Symposium - Phenylketonuria.- and explanation.- Maternal phenylketonuria.- Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function.- Diagnosis in relationship to treatment of hyperphenylalaninaemia.- Problems related to diet management of maternal phenylketonuria.- Short Communications.- Preface and Free Communications.- Molecular biology ofphenylalanine hydroxylase.- Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patients.- Phenylalanine metabolites in treated phenylketonuric children.- Magnesium-deficient rickets in a phenylketonuric patient on dietary treatment.- Termination of strict diet in phenylketonuria: neurophysiological, psychological and biochemical studies.- Effects of stopping phenylalanine-restricted diet on intellectual progress of children with phenylketonuria.- Maternal hyperphenylalaninaemia: dietary treatment during pregnancy.- Maternal hyperphenylalaninaemia in Israel.- Maternal phenylketonuria with increased tyrosine supplements.- Screening for phenylketonuria in Yugoslavia (SR Croatia) 1979-1984.- Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population.- Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family.- Dihydropteridine reductase deficiency: clinical, biochemical and therapeutic aspects.- Partial dihydropteridine reductase deficiency and mental retardation.- Urine amino acid analysis by HPLC in the investigation of inborn errors of metabolism.- Plasma amino acid patterns in critically ill children.- Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution.- Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia.- A new case of hyperlysinaemia with saccharopinuria.- Failure of early diazepam treatment in a neonate with non-ketotic hyperglycinaemia.- Gyrate atrophy of the choroid and retina: 3 cases in one Italian family.- Methylenetetrahydrofolate reductase and methyltetrahydrofolate methyltransferase in human fetal tissues and chorionic villi.- Kinetic studies on theglucose-6-phosphate transport system in rat hepatic microsomal membrane.- Long term cornstarch therapy in glycogen storage disease types I, lb and III.- Galactose-l-phosphate-uridyl transferase activity in chorionic villi: a first trimester prenatal diagnosis of galactosaemia.- Molecular heterogeneity of McArdle disease.- Decreased affinity of phosphorylase for glucose-1 -phosphate in polymorphonuclear leukocytes.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic condit…ions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue sampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism. The format consisted of the usual mixture of specific invited overviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene therapy. Similarly, the oral com munications included reviews of experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current status of this Study ofInborn Errors of Metabolism was held in Cardiff field. The difficulty in est…ablishing an uneq uivocal clinical and the proceedings published in 1973. The meeting was devoted to the treatment of inborn errors of metabolism; response to vitamin treatment was discussed by Dr in particular the dietary treatment of phenylketonuria Leonard. The papers on biotin-responsive combined and vitamin responsive disorders were reviewed. These carboxylase deficiency presented by Drs Bartlett, Wolf two areas have seen notable advances in the intervening and Baumgartner emphasized the widely differing years. It has become apparent that a number of variants of mechanisms which may underline apparently similar PKU are due to defective cofactor metabolism, and, clinical responses. In particular biotinidase deficiency appears to be a unique defect of cofactor recycling. indeed, some patients refractory to simple dietary restriction of phenylalanine respond to the adminis Riboflavin, thiamine, and pyridoxine responsive disor tration of the phenylalanine hydroxylase cofactor ders were succinctly reviewed by Drs Gregersen, Duran and Fowler, again interspersed with relevant short biopterin or related compounds. Biopterin, normally communications from members. Two papers by Drs synthesized de 110W, in some individuals has become a vitamin'.
