Inborn Metabolic Diseases - Jean-Marie Saudubray, John Walter, Matthias R. Baumgartner | Consegna Gratis
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Inborn Metabolic Diseases

Inborn Metabolic Diseases
titolo Inborn Metabolic Diseases
sottotitolo Diagnosis and Treatment
autori , ,
argomenti Medicina Genetica Malattie genetiche
Medicina Pediatria Endocrinologia e metabolismo
Medicina Genetica
Medicina Pediatria
editore Springer-Verlag Berlin and Heidelberg GmbH & Co. K
formato Libro
pagine 689
pubblicazione 2016
ISBN 9783662497692
18app Carta del docente Acquistabile con bonus 18app o Carta del docente
187,00 177,65 (-5%)

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.


Indice testuale

Section I Diagnosis and Treatment: General Principles 1 Clinical Approach to Inborn Errors of Metabolism.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures: Functional Tests and Post-mortem Protocol.- 4 Emergency Treatments Section II Disorders of Carbohydrate Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Disorders of Galactose Metabolism.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Fructose Metabolism.- 9 Persistent Hyperinsulinaemic Hypoglycaemia.- 10 Disorders of Glucose Transport Section III Disorders of Mitochondrial Energy Metabolism 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation.- 13 Disorders of Ketogenesis and Ketolysis.- 14 Disorders of the Respiratory Chain.- 15 Creatine Deficiency Syndromes Section IV Disorders of Amino Acid Metabolism and Transport 16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia (Glycine Encephalopathy).- 24 Disorders of Amino Acid Synthesis: Glutamine, Serine and Asparagine.- 25 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder Section V Vitamin-Responsive Disorders 26 Biotin-responsive Disorders.- 27 Disorders of Cobalamin and Folate Transport and Metabolism.- 28 Disorders of Thiamine and Pyridoxine Transport and Metabolism Section VI Neurotransmitter and Small Peptide Disorders 29 Disorders of Neurotransmission.- 30 Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione Section VII Disorders of Lipid and Bile Acid Metabolism 31 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 32 Disorders of Cholesterol Synthesis.- 33 Disorders of Bile Acid Synthesis.- 34 Disorders of Phospholipid and Triglyceride 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 37 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems 38 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses.- 39 Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 40 Disorders of Fatty Acid and Plasmalogen Metabolism Including Peroxisomal Disorders.- 41 Congenital Disorders of Glycosylation and Dolichol and GPI Metabolism.- 42 Cystinosis Section XI Appendices 43 Medications Used in the Treatment of Inborn Errors

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