In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
• Fully updated to incorporate all new developments in the field
• Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others
• Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management
• Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability
The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
Part 1: Organic acidemias
Part 2: Disorders of amino acid metabolism
Part 3: Hyperammonemia and Disorders of the Urea Cycle
Part 4: Disorders of fatty acid oxidation
Part 5: The lactic acidemias and mitochondrial disease
Part 6: Disorders of carbohydrate metabolism
Part 7: Peroxisomal disorders
Part 8: Disorders of purine and pyrimidine metabolism
Part 9: Mucopolysaccharidoses
Part 10: Mucolipidosis
Part 11: Disorders of Cholesterol and Neutral Lipid Metabolism
Part 12: Lipid Storage Disorders
Part 13: Miscellaneous
Appendix: Differential diagnosis of clinical phenotypes
لینک کوتاه : https://bookbaz.ir/?p=180938
نویسنده : William L Nyhan
ناشر : CRC Press; 4th edition
سال انتشار : 2020
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 871
(ISBN) شابک : 1138196592
قیمت کتاب درآمازون : $156.15
حجم فایل : 30 MB