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Inborn Metabolic Diseases Diagnosis and Treatment 6th Edition

Inborn Metabolic Diseases Diagnosis and Treatment 6th Edition
Inborn Metabolic Diseases Diagnosis and Treatment 6th Edition
  • Συγγραφείς: Saudubray
  • ISBN: 9783662497715
  • Εκδότης: SPRINGER
  • Σελίδες: 658
  • Διαστάσεις: Hardcover
  • Έτος Έκδοσης: 2016
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Χωρίς ΦΠΑ: 182,08€
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  • Essential resource in the interdisciplinary field of inborn metabolic diseases
  • Indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology
  • Written by internationally recognised experts on their subjects

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.

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.


Reviews

“Inborn Metabolic Diseases: Diagnosis and Treatment remains one of the standard textbooks for professionals working in inborn metabolic medicine and biochemical genetics. … Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one.” (Ulrike Mütze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)


Table of contents (43 chapters)

  • Clinical Approach to Inborn Errors of Metabolism in Pediatrics

    Saudubray, Jean-Marie (et al.)

    Pages 3-70

  • Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

    Mochel, Fanny (et al.)

    Pages 71-89

  • Diagnostic Procedures

    Touati, Guy (et al.)

    Pages 91-107

  • Emergency Treatments

    Schiff, Manuel (et al.)

    Pages 109-117

  • The Glycogen Storage Diseases and Related Disorders

    Walter, John (et al.)

    Pages 121-137

  • Disorders of Galactose Metabolism

    Berry, Gerard T. (et al.)

    Pages 139-147

  • Disorders of Glycolysis and the Pentose Phosphate Pathway

    Wamelink, Mirjam M.C. (et al.)

    Pages 149-160

  • Disorders of Fructose Metabolism

    Steinmann, Beat (et al.)

    Pages 161-168

  • Congenital Hyperinsulinism

    Arnoux, Jean-Baptiste (et al.)

    Pages 169-174

  • Disorders of Glucose Transport

    Santer, René (et al.)

    Pages 175-183

  • Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

    Meirleir, Linda (et al.)

    Pages 187-199

  • Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism

    Morris, Andrew A. M. (et al.)

    Pages 201-213

  • Disorders of Ketogenesis and Ketolysis

    Morris, Andrew A. M.

    Pages 215-221

  • Disorders of Oxidative Phosphorylation

    Rahman, Shamima (et al.)

    Pages 223-242

  • Creatine Deficiency Syndromes

    Stöckler-Ipsiroglou, Sylvia (et al.)

    Pages 243-248

  • Hyperphenylalaninaemia

    Burgard, Peter (et al.)

    Pages 251-263

  • Disorders of Tyrosine Metabolism

    Chakrapani, Anupam (et al.)

    Pages 265-275

  • Branched-chain Organic Acidurias/Acidaemias

    Schiff, Manuel (et al.)

    Pages 277-294

  • Disorders of the Urea Cycle and Related Enzymes

    Häberle, Johannes (et al.)

    Pages 295-308

  • Disorders of Sulfur Amino Acid Metabolism

    Kožich, Viktor (et al.)

    Pages 309-320

  • Disorders of Ornithine and Proline Metabolism

    Baumgartner, Matthias R. (et al.)

    Pages 321-331

  • Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

    Hoffmann, Georg F. (et al.)

    Pages 333-348

  • Nonketotic Hyperglycinemia (Glycine Encephalopathy) and Lipoate Deficiency Disorders

    Hove, Johann L.K. (et al.)

    Pages 349-356

  • Disorders of Glutamine, Serine and Asparagine Metabolism

    Jaeken, Jaak (et al.)

    Pages 357-362

  • Disorders of Amino Acid Transport at the Cell Membrane

    Näntö-Salonen, Kirsti (et al.)

    Pages 363-371

  • Biotin-responsive Disorders

    Baumgartner, Matthias R. (et al.)

    Pages 375-383

  • Disorders of Cobalamin and Folate Transport and Metabolism

    Watkins, David (et al.)

    Pages 385-399

  • Disorders of Thiamine and Pyridoxine Metabolism

    Brown, Garry (et al.)

    Pages 401-412

  • Disorders of Neurotransmission

    Garcia-Cazorla, Angels (et al.)

    Pages 415-427

  • Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione

    Walter, John (et al.)

    Pages 429-437

  • Inborn Errors of Lipoprotein Metabolism Presenting in Childhood

    Ramaswami, Uma (et al.)

    Pages 441-454

  • Disorders of Isoprenoid/Cholesterol Synthesis

    Waterham, Hans R. (et al.)

    Pages 455-464

  • Disorders of Bile Acid Synthesis

    Clayton, Peter T.

    Pages 465-475

  • Disorders of Intracellular Triglyceride and Phospholipid Metabolism

    Lamari, Foudil (et al.)

    Pages 477-491

  • Disorders of Purine and Pyrimidine Metabolism

    Marie, Sandrine (et al.)

    Pages 495-513

  • Disorders of Haem Biosynthesis

    Lourenço, Charles Marquez (et al.)

    Pages 515-527

  • Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc

    Hasselt, Peter M. (et al.)

    Pages 531-548

  • Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses

    Vanier, Marie T. (et al.)

    Pages 551-575

  • Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

    Jones, Simon (et al.)

    Pages 577-590

  • Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

    Wanders, Ronald J.A. (et al.)

    Pages 591-606

  • Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism

    Jaeken, Jaak (et al.)

    Pages 607-622

  • Cystinosis

    Niaudet, Patrick

    Pages 623-629

  • Medications Used in the Treatment of Inborn Errors

    Walter, John

    Pages 633-641



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