Produktbild: Inborn Metabolic Diseases
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Inborn Metabolic Diseases Diagnosis and Treatment

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Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

28.01.2014

Abbildungen

87 schwarzweisse Abbildungen,

Herausgeber

Jean-Marie Saudubray + weitere

Verlag

Springer Berlin

Seitenzahl

660

Maße (L/B/H)

26/19,3/3,6 cm

Gewicht

1408 g

Auflage

5. Auflage

Sprache

Englisch

ISBN

978-3-642-43420-4

Beschreibung

Rezension

From the reviews of the fifth edition:

"The authors did an impressive job making sure the book was up to date, including discussions of therapies that are still in their experimental stages. ... Inborn Metabolic Diseases is an excellent clinical guide and reference to this complex subject. It will be highly valuable to anyone who cares for patients with metabolic diseases, or for whom such diseases are regularly in the differential diagnosis." (Daniel Kenney, Neurology, April, 2013)
"This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. ... the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. ... This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice." (Hans Christoph Andersson, Doody's Book Reviews, October, 2012)

Portrait

Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children´s Hospital, Manchester, Great Britain

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

28.01.2014

Abbildungen

87 schwarzweisse Abbildungen,

Herausgeber

Verlag

Springer Berlin

Seitenzahl

660

Maße (L/B/H)

26/19,3/3,6 cm

Gewicht

1408 g

Auflage

5. Auflage

Sprache

Englisch

ISBN

978-3-642-43420-4

Herstelleradresse

Springer Heidelberg
Tiergartenstr. 17
69121 Heidelberg
DE
buchhandel-buch@springer.com

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  • Produktbild: Inborn Metabolic Diseases
  • Part I: Diagnosis and Treatment: General Principles: Classification and clinical Approach to Inherited Metabolic Diseases in Pediatrics.- Clinical approach to Inherited Metabolic Diseases in Adulthood.- Newborn Screening for Inborn Errors of Metabolism.- Diagnostic Procedures and Postmortem Protocol.- Emergency Treatments.- Part II: Disorders of Carbohydrate Metabolism: Glycogen-Storage Diseases and Related Disorders.- Disorders of Galactose Metabolism.- Disorders of the Pentose Phosphate Pathway.- Disorders of Fructose Metabolism.- Persistent Hyperinsulinemic Hypoglycemia.- Disorders of Glucose Transport.- Part III: Disorders of Mitochondrial Energy Metabolism: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways.- Disorders of Ketogenesis and Ketolysis.- Defects of the Respiratory Chain.- Creatine Deficiency Syndromes.- Part IV: Disorders of Amino Acid Metabolism and Transport: Hyperphenylalaninaemias.- Disorders of Tyrosine Metabolism.- Branched-Chain Organic Acidurias/Acidemias.- Disorders of the Urea Cycle and Related Enzymes.- Disorders of Sulfur Amino Acid Metabolism.- Disorders of Ornithine Metabolism.- Cerebral Organic Acid Disorders and other Disorders of Lysine Catabolism.- Nonketotic Hyperglycinemia (Glycine Encephalopathy).- Disorders of Proline and Serine Metabolism.- Transport Defects of Amino Acids at the Cell Membrane.- Part V : Vitamin-Responsive Disorders: Biotin-Responsive Multiple Carboxylase Deficiency.- Disorders of Cobalamin and Folate Transport and Metabolism.- Part VI: Neurotransmitter and Small Peptide Disorders: Disorders of Neurotransmission.- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency.- Part VII: Disorders of Lipid and Bile Acid Metabolism: Dyslipidemias.- Disorders of Cholesterol Synthesis.- Disorders of Bile Acid Synthesis.- Part VIII: Disorders of Nucleic Acid and Heme Metabolism: Disorders of Purine and Pyrimidine Metabolism.- Disorders of Heme Biosynthesis .- Part IX: Disorders of Metal Transport: Disorders in the Transport of Copper, Zinc and Magnesium.- Part X: Organelle-Related Disorders: Lysosomes, Peroxysomes, and Golgi and Pre-Golgi Systems: Disorders of Sphingolipid Metabolism and Ceroid lipofuscinosis.- Pompe Disease, Mucopolysaccharidoses, and Oligosacharidoses.- Peroxisomal Disorders.- Congenital Disorders of Glycosylation.- Cystinosis.