Models for the Study of Inborn Errors of Metabolism

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Publisher : North-Holland
ISBN 13 :
Total Pages : 392 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Models for the Study of Inborn Errors of Metabolism by : Frits A. Hommes

Download or read book Models for the Study of Inborn Errors of Metabolism written by Frits A. Hommes and published by North-Holland. This book was released on 1979 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inborn Errors of Metabolism in Humans

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Publisher : Springer Science & Business Media
ISBN 13 : 940097325X
Total Pages : 298 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Inborn Errors of Metabolism in Humans by : F. Cockburn

Download or read book Inborn Errors of Metabolism in Humans written by F. Cockburn and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Models for the Study of Inborn Errors of Metabolism : Proceedings of an International Symposium on Models for the Study of Inb

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (959 download)

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Book Synopsis Models for the Study of Inborn Errors of Metabolism : Proceedings of an International Symposium on Models for the Study of Inb by : Netherlands) International Symposium on Models for the Study of Inborn Errors of Metabolism (1978 : Eernewoude

Download or read book Models for the Study of Inborn Errors of Metabolism : Proceedings of an International Symposium on Models for the Study of Inb written by Netherlands) International Symposium on Models for the Study of Inborn Errors of Metabolism (1978 : Eernewoude and published by . This book was released on 1979 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inborn Errors of Skin, Hair and Connective Tissue

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Publisher : Springer Science & Business Media
ISBN 13 : 9401166153
Total Pages : 285 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Inborn Errors of Skin, Hair and Connective Tissue by : J.B. Holton

Download or read book Inborn Errors of Skin, Hair and Connective Tissue written by J.B. Holton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.

Animal Models of Inherited Metabolic Diseases

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Publisher : Alan R. Liss
ISBN 13 :
Total Pages : 556 pages
Book Rating : 4.:/5 (89 download)

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Book Synopsis Animal Models of Inherited Metabolic Diseases by : Robert J. Desnick

Download or read book Animal Models of Inherited Metabolic Diseases written by Robert J. Desnick and published by Alan R. Liss. This book was released on 1982 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Some Recent Advances in Inborn Errors of Metabolism: Proceedings of the Fourth Symposium of the Society for the Study of Inborn Errors of Metabolism, Held in Dublin, July 1966

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Publisher : Churchill Livingstone
ISBN 13 :
Total Pages : 186 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Some Recent Advances in Inborn Errors of Metabolism: Proceedings of the Fourth Symposium of the Society for the Study of Inborn Errors of Metabolism, Held in Dublin, July 1966 by : Society for the Study of Inborn Errors of Metabolism

Download or read book Some Recent Advances in Inborn Errors of Metabolism: Proceedings of the Fourth Symposium of the Society for the Study of Inborn Errors of Metabolism, Held in Dublin, July 1966 written by Society for the Study of Inborn Errors of Metabolism and published by Churchill Livingstone. This book was released on 1968 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Some Recent Advances in Inborn Errors of Metabolism

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Publisher :
ISBN 13 : 9780598253835
Total Pages : 0 pages
Book Rating : 4.2/5 (538 download)

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Book Synopsis Some Recent Advances in Inborn Errors of Metabolism by : Society for the Study of Inborn Errors of Metabolism

Download or read book Some Recent Advances in Inborn Errors of Metabolism written by Society for the Study of Inborn Errors of Metabolism and published by . This book was released on 1968 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Current Catalog

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Publisher :
ISBN 13 :
Total Pages : 720 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Current Catalog by : National Library of Medicine (U.S.)

Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1969 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Includes subject section, name section, and 1968-1970, technical reports.

Inborn Errors of Metabolism

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Publisher : Oxford University Press
ISBN 13 : 0199797684
Total Pages : 393 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Inborn Errors of Metabolism by : Brendan Lee MD, PhD

Download or read book Inborn Errors of Metabolism written by Brendan Lee MD, PhD and published by Oxford University Press. This book was released on 2014-10-01 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.

The NLM Technical Bulletin

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Publisher :
ISBN 13 :
Total Pages : 352 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis The NLM Technical Bulletin by :

Download or read book The NLM Technical Bulletin written by and published by . This book was released on 1979 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Transport and Inherited Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 9400973160
Total Pages : 384 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Transport and Inherited Disease by : C. Toothill

Download or read book Transport and Inherited Disease written by C. Toothill and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many clinical problems of transport have been known for decades, par ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No.4, pp.123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK).

National Library of Medicine Current Catalog

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Publisher :
ISBN 13 :
Total Pages : 1242 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis National Library of Medicine Current Catalog by : National Library of Medicine (U.S.)

Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1974 with total page 1242 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.

Medico-Social Management of Inherited Metabolic Disease

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Publisher : Springer
ISBN 13 : 9789401161756
Total Pages : 310 pages
Book Rating : 4.1/5 (617 download)

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Book Synopsis Medico-Social Management of Inherited Metabolic Disease by : D.N. Raine

Download or read book Medico-Social Management of Inherited Metabolic Disease written by D.N. Raine and published by Springer. This book was released on 2012-03-12 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.

Treatment of Inborn Errors of Metabolism: Current Treatment and Future Prospects

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Publisher :
ISBN 13 :
Total Pages : 284 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Treatment of Inborn Errors of Metabolism: Current Treatment and Future Prospects by : Society for the Study of Inborn Errors of Metabolism

Download or read book Treatment of Inborn Errors of Metabolism: Current Treatment and Future Prospects written by Society for the Study of Inborn Errors of Metabolism and published by . This book was released on 1973 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt:

PROCEEDINGS- INTERNATIONAL SYMPOSIUM ON LABORATORY SCREENING TECHNIQUES FOR INBORN ERRORS OF METABOLISM IN NEWBORN AND SELECTED HIGH-RISK INFANTS- NATIONAL SCIENCE FOUNDATION.

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ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (846 download)

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Book Synopsis PROCEEDINGS- INTERNATIONAL SYMPOSIUM ON LABORATORY SCREENING TECHNIQUES FOR INBORN ERRORS OF METABOLISM IN NEWBORN AND SELECTED HIGH-RISK INFANTS- NATIONAL SCIENCE FOUNDATION. by :

Download or read book PROCEEDINGS- INTERNATIONAL SYMPOSIUM ON LABORATORY SCREENING TECHNIQUES FOR INBORN ERRORS OF METABOLISM IN NEWBORN AND SELECTED HIGH-RISK INFANTS- NATIONAL SCIENCE FOUNDATION. written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inherited Disorders of Sulphur Metabolism

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Publisher :
ISBN 13 : 9780598254603
Total Pages : 322 pages
Book Rating : 4.2/5 (546 download)

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Book Synopsis Inherited Disorders of Sulphur Metabolism by : Society for the Study of Inborn Errors of Metabolism Staff

Download or read book Inherited Disorders of Sulphur Metabolism written by Society for the Study of Inborn Errors of Metabolism Staff and published by . This book was released on 1971 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cumulated Index Medicus

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Publisher :
ISBN 13 :
Total Pages : 1860 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Cumulated Index Medicus by :

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1999 with total page 1860 pages. Available in PDF, EPUB and Kindle. Book excerpt: