Phenylketonuria and BH4 Deficiencies
Published: 2021
Nenad Blau
UNI-MED Science, 4th edition 2021
ISBN 978-3-8374-1601-5
Vademecum Metabolicum: Diagnosis and Treatment of Inherited Metabolic Disorders
Published: 2021
J. Zschocke and G.F. Hoffmann
Thieme, 2021
Entendiendo las metabolopatías: Una guía sencilla con ejemplos
Published: 2020
Isidro Vitoria Minana
Editorial Tierra 2020
ISBN 978-8-4182-8525-7
Inherited Disorders of Biogenic Amines: A Practical Guide
Published: 2020
Nenad Blau and Georg F Hoffmann
UNI-MED Science 2020
ISBN 978-3-8374-1595-7
Sheila – Unlocking the treatment for PKU
Published: 2020
Anne Green
Brewin Books, 2020
ISBN 978-1-85858-714-1
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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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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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 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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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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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
Publisher Website
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
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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PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin
Published: 2006
Nenad Blau (Editor)
1stEdition 2006
Heilbronn: SPS Verlagsgesellschaft, 2006
ISBN 3-936145-21-0
Landmarks in Medical Genetics
Published: 2004
P.S. Harper
Oxford University Press, 2004
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Vademecum Metabolicum: Manual of Metabolic Paediatrics
Published: 2004
J. Zschocke and G.F. Hoffmann
Milupa GmbH, 2004
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A clinical Guide to Inherited Metabolic Diseases
Published: 2002
J.T.R. Clarke
Cambridge University Press, 2002
Inherited Metabolic Diseases
Published: 2002
G.F. Hoffmann, W.L. Nyhan, J. Zschocke, S.G. Kahler, and E. Mayatepek
Lippincott Williams & Wilkins, 2002