Phenylketonuria and BH4 Deficiencies

Published: 2021
Nenad Blau
UNI-MED Science, 4th edition 2021
ISBN 978-3-8374-1601-5

More information

Vademecum Metabolicum: Diagnosis and Treatment of Inherited Metabolic Disorders

Published: 2021
J. Zschocke and G.F. Hoffmann
Thieme, 2021

Visit website

Entendiendo las metabolopatías: Una guía sencilla con ejemplos

Published: 2020
Isidro Vitoria Minana 
Editorial Tierra 2020
ISBN 978-8-4182-8525-7  

More information

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

More information


Sheila – Unlocking the treatment for PKU

Published: 2020
Anne Green
Brewin Books, 2020
ISBN 978-1-85858-714-1

More information

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.

Visit Book Website

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.

Visit Book Website

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

Visit Book Website

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

Visit Book Website

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

View NEJM Review (PDF)

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:
This email address is being protected from spambots. You need JavaScript enabled to view it.

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

Visit website

Vademecum Metabolicum: Manual of Metabolic Paediatrics

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

Visit website

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


Membership of the Society is open to all interested in and willing to support the aims of the Society.

 Membership 2024      User Profile


SSIEM Administrator

Society for the Study of Inborn
Errors of Metabolism (SSIEM)
PO Box 3375,
South Croydon, CR2 1PN 
United Kingdom

Registered Office: 
The Society for Study of Inborn Errors of Metabolism,
C/O Stone King LLP,
Boundary House,
91 Charterhouse Street,
London, United Kingdom, EC1M 6HR

Registered Charity No.1010639
Registered Company No.2567711
Website & Contents © SSIEM 2005-2020


JIMD Online

Access for Members
Journal of Inherited Metabolic Disease

About the Journal

SSIEM E-Learning

now released
Online learning resource


We use cookies

We use cookies on our website. Some of them are essential for the operation of the site, while others help us to improve this site and the user experience (tracking cookies). You can decide for yourself whether you want to allow cookies or not. Please note that if you reject them, you may not be able to use all the functionalities of the site.