Inborn Metabolic Diseases : Diagnosis and Treatment / edited by Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter.

Format:

Book

Contributor:

Saudubray, J. M. (Jean-Marie), 1937- editor.

Baumgartner, Matthias R., editor.

Walter, John (John Hugh), editor.

SpringerLink (Online service)

Language:

English

Subjects (All):

Medicine.

Human genetics.

Endocrinology.

Neurology.

Pediatrics.

Medicine & Public Health.

Human Genetics.

Local Subjects:

Medicine & Public Health.

Pediatrics.

Human Genetics.

Endocrinology.

Neurology.

Physical Description:

1 online resource

Contained In:

Springer eBooks

Place of Publication:

Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2016.

System Details:

text file PDF

Summary:

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents 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. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.

Contents:

Section I Diagnosis and Treatment: General Principles

Section II Disorders of Carbohydrate Metabolism

Section III Disorders of Mitochondrial Energy Metabolism

Section IV Disorders of Amino Acid Metabolism and Transport

Section V Vitamin-Responsive Disorders

Section VI Neurotransmitter and Small Peptide Disorders

Section VII Disorders of Lipid and Bile Acid Metabolism

Section VIII Disorders of Nucleic and Heme Metabolism

35 Disorders of Purine and Pyrimidine Metabolism

36 Disorders of Haem Biosynthesis

Section IX Disorders of Metal Transport

Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

Section XI Appendices.

Other Format:

Printed edition:

ISBN:

9783662497715

Access Restriction:

Restricted for use by site license.