Inborn Metabolic Diseases [electronic resource] : Diagnosis and Treatment /
Fernandes, John.editor.
Saudubray, Jean-Marie.editor.
Berghe, Georges van den.editor.
Walter, John H.editor.
Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases - Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.
Description based upon print version of record.
Diagnosis and Treatment: General Principles -- A Clinical Approach to Inherited Metabolic Diseases -- Newborn Screening for Inborn Errors of Metabolism -- Diagnostic Procedures: Function Tests and Postmortem Protocol -- Emergency Treatments -- Treatment: Present Status and New Trends -- Disorders of Carbohydrate Metabolism -- The 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 -- 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 -- Disorders of Amino Acid Metabolism and Transport -- Hyperphenylalaninaemia -- 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: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder -- Vitamin-Responsive Disorders -- Biotin-Responsive Disorders -- Disorders of Cobalamin and Folate Transport and Metabolism -- Neurotransmitter and Small Peptide Disorders -- Disorders of Neurotransmission -- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides -- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency -- Disorders of Lipid and Bile Acid Metabolism -- Dyslipidemias -- Disorders of Cholesterol Synthesis -- Disorders of Bile Acid Synthesis -- Disorders of Nucleic Acid and Heme Metabolism -- Disorders of Purine and Pyrimidine Metabolism -- Disorders of Heme Biosynthesis -- Disorders of Metal Transport -- Disorders in the Transport of Copper, Zinc and Magnesium -- Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Disorders of Sphingolipid Metabolism -- Mucopolysaccharidoses and Oligosaccharidoses -- Peroxisomal Disorders -- Congenital Disorders of Glycosylation -- Cystinosis -- Primary Hyperoxalurias.
Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases - Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.
Pediatrics.
Human genetics.
Endocrinology .
Neurology .
Pediatrics.
Human Genetics.
Endocrinology.
Neurology.