Inherited Metabolic Diseases

Published: 2002
G.F. Hoffmann, W.L. Nyhan, J. Zschocke, S.G. Kahler, and E. Mayatepek
Lippincott Williams & Wilkins, 2002

A clinical Guide to Inherited Metabolic Diseases

Published: 2002
J.T.R. Clarke
Cambridge University Press, 2002

Vademecum Metabolicum: Manual of Metabolic Paediatrics

Published: 2004
J. Zschocke and G.F. Hoffmann
Milupa GmbH, 2004

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Landmarks in Medical Genetics

Published: 2004
P.S. Harper
Oxford University Press, 2004

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Practical Approach to Rare Metabolic Disorders

Published: 2005
H.W. de Valk MD PhD
Z.M.Barriento Martinez MSc

You can order this book at the University Medical Center Utrecht by sending an email to:
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Atlas of Metabolic Diseases Second edition

Published: 2005
William L Nyhan, Bruce A Barshop and Pinar T Ozand
Published 26/08/2005
Extent: 736
ISBN: 0340809701

PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin

Published: 2006
Nenad Blau (Editor)
1stEdition 2006
Heilbronn: SPS Verlagsgesellschaft, 2006
ISBN 3-936145-21-0

Laboratory Guide to the Methods in Biochemical Genetics

Published: 2008
Blau, N.; Duran, M.; Gibson, K.M. (Eds.)
Springer -Verlag Berlin Heidelberg, 2008
ISBN 978-3-540-76697-1

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Pediatric Endocrinology and Inborn Errors of Metabolism

Published: 2009
Sarafoglou, K., Hoffmann, G.F. und Roth, K.S
The McGraw-Hill Companies Medical
ISBN 978-0-07-143915-2

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Phenylketonuria and BH4 Deficiencies

Published: 2010
Nenad Blau, Barbara K. Burton, Beat Th�ny, Francjan J. van Spronsen, Susan Waisbren
1st edition 2010, 80 pp, 23 illustrations, Hardcover, ISBN 978-3-8374-1238-3

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Inherited Metabolic Diseases: A clinical approach

Published: 2010
Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (Eds.)
1st Edition., 2010, 448 p. 58 illus., 25 in color. With CD-ROM.,

Springer Website

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Published: 2014
Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C. (Eds.)
2014, XLV, 867 p. 163 illus., 82 illus. in color., Hardcover or eBook

ISBN 978-3-642-40337-8

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Inherited Metabolic Diseases: A Clinical Approach - Second Edition

Published: 2016
Editors: Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L.

2nd ed. 2016, XVII, 590 p. 80 illus., 34 illus. in colour. With online files/update
ISBN 978-3-662-49771-5

Provides clear guidance on diagnosis and initial management of patients with metabolic diseases
Helps physicians to reach correct diagnoses, reducing unnecessary referrals
Offers a valuable, quick reference for metabolic and genetic specialists
Contains helpful algorithms and a compendium of differential diagnoses
Written by renowned experts in the field

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Inherited Metabolic Disease in Adults

Published: 2016
A Clinical Guide
Edited by Carla E. M. Hollak and Robin Lachmann
Published: 18 August 2016; 672 Pages;
279x216mm; ISBN: 9780199972135

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.

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Inborn Metabolic Diseases - Diagnosis and Treatment

Published: 2016
J.-M. Saudubray, M.R. Baumgartner, J.H. Walter (Eds.)6th ed. 2016, Approx. 670 p. 81 illus., 69 illus. in color. Hardcover, ISBN 978-3-662-49769-2

A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications.

Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles.

Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

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