Inborn Metabolic Diseases: Diagnosis and Treatment
Editat de Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walteren Limba Engleză Paperback – 8 aug 2023
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
| Toate formatele și edițiile | Preț | Express |
|---|---|---|
| Paperback (1) | 1292.49 lei 6-8 săpt. | |
| Springer Berlin, Heidelberg – 8 aug 2023 | 1292.49 lei 6-8 săpt. | |
| Hardback (1) | 1616.30 lei 3-5 săpt. | +88.08 lei 7-13 zile |
| Springer Berlin, Heidelberg – 8 aug 2022 | 1616.30 lei 3-5 săpt. | +88.08 lei 7-13 zile |
Preț: 1292.49 lei
Preț vechi: 1502.90 lei
-14% Nou
Puncte Express: 1939
Preț estimativ în valută:
247.33€ • 261.29$ • 206.78£
247.33€ • 261.29$ • 206.78£
Carte tipărită la comandă
Livrare economică 01-15 ianuarie 25
Preluare comenzi: 021 569.72.76
Specificații
ISBN-13: 9783662631256
ISBN-10: 3662631253
Pagini: 894
Ilustrații: XXXIX, 894 p. 102 illus., 96 illus. in color.
Dimensiuni: 210 x 279 x 53 mm
Greutate: 2.26 kg
Ediția:7th ed. 2022
Editura: Springer Berlin, Heidelberg
Colecția Springer
Locul publicării:Berlin, Heidelberg, Germany
ISBN-10: 3662631253
Pagini: 894
Ilustrații: XXXIX, 894 p. 102 illus., 96 illus. in color.
Dimensiuni: 210 x 279 x 53 mm
Greutate: 2.26 kg
Ediția:7th ed. 2022
Editura: Springer Berlin, Heidelberg
Colecția Springer
Locul publicării:Berlin, Heidelberg, Germany
V-ar putea interesa
-
-27%Preț: 639.40 lei877.11 lei -
Strategies for Scaling Effective Family-Focused Preventive Interventions to Promote Children's Cognitive, Affective, and Behavioral Health: Workshop SForum on Promoting Children's Cognitive-5%Preț: 211.88 lei223.03 lei -
-5%Preț: 260.51 lei274.22 lei -
The Iron HorseJohn Walter-6%Preț: 174.73 lei185.06 lei -
Handbook of Human Development: Introducing Real AnalysisKathleen M. Thies-5%Preț: 503.45 lei529.96 lei -
Pediatric Sinusitis and Sinus SurgeryRamzi T. Younis-18%Preț: 1055.07 lei1292.13 lei -
Preț: 276.55 lei -
-5%Preț: 296.56 lei312.17 lei -
Nature's WondersJohn WalterPreț: 181.40 lei -
Handbook of Pediatric Obesity: Clinical ManagementMelinda S. Sothern-25%Preț: 1201.67 lei1608.42 lei -
Insulin Resistance in Children and AdolescentsDennis Daneman-27%Preț: 819.21 lei1122.62 lei -
Handbook of Child and Adolescent PsychopharmacologyBen Vitiello-18%Preț: 724.20 lei880.52 lei -
Sichere Hausmittel für mein KindThomas Hoek-5%Preț: 409.79 lei431.36 lei -
-5%Preț: 393.67 lei414.38 lei -
-5%Preț: 504.30 lei530.85 lei
Cuprins
I Diagnosis and treatment: General principles.- II Disorders of Energy Metabolism.- III Small Molecule Disorders.- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders.- Section V Appendices
Notă biografică
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Textul de pe ultima copertă
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
Contents
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
Contents
- A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations.
- Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
- Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Caracteristici
A clinical and biochemical approach to the diagnosis and management of IEM Indispensable for professionals in pediatrics, neonatology, pathological biochemistry, genetics, neurology Written by internationally recognised experts on their subjects
Descriere
Descriere de la o altă ediție sau format:
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.