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Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data.
Table des matières
One: Approach to Diagnosis.- A Simple Tests in Urine and Blood.- B Amino Acid Analysis.- C Organic Acid Analysis.- D Miscellaneous Analyses.- E Tandem Mass Spectrometry in Clinical Diagnosis.- F Proton NMR Spectroscopy of Body Fluids.- Two: Disorders.- 1 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- 2 Disorders of Neurotransmitter Metabolism.- Disorders of GABA, Glycine, Serine and Proline.- 4 Disorders of Tyrosine Degradation.- 5 Disorders of Histidine Metabolism.- 6 Disorders of Leucine Metabolism.- 7 Disorders of Valine-Isoleucine Metabolism.- 8 Various Organic Acidurias.- 9 Disorders of the & ?-Glutamyl Cycle.- 10 Disorders of Sulfur Amino Acids.- 11 Inherited Hyperammonemias.- 12 Disorders of Ornithine, Lysine and Tryptophan.- 13 Defective Transcellular Transport of Amino Acids.- 14 Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling.- 15 Disorders of Carbohydrate and Glycogen Metabolism.- 16 Disorders of Glucose Transport.- 17 Disordersof Glycerol Metabolism.- 18 The Mucopolysaccharidoses.- 19 Oligosaccharidoses and Related Disorders.- 20 Congenital Disorders of Glycosylation.- 21 Cystin.- 22 Other Storage Disorders.- 23 Purine and Pyrimidine Disorders.- 24 Disorders of Creatine Metabolism.- 25 Peroxisomal Disorders.- 26 Hyperoxaluria.- 27 Mitochondrial Energy Metabolism.- 28 Genetic Dyslipoproteinemias.- 29 Disorders of Steroid Synthesis and Metabolism.- 30 Inborn Errors of Cholesterol Biosynthesis.- 31 The Porphyrias.- 32 Disorders of Bile Acid Synthesis.- 33 Disorders of Copper, Zinc and Iron Metabolism.- 34 Leukotrienes.- 35 Other Metabolic Disorders.- Three: Indices.- Disorders Index.- Signs and Symptoms Index.- Tests Index.
Résumé
Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data.
Texte suppl.
From the reviews of the second edition:
"This book provides a summary text which condenses a wealth of information into a readily accessible form. … All paediatricians could benefit by using this book as an authoritative summary on metabolic disease. … The book would also be of great value to scientists and chemical pathologists working in the field of paediatric clinical biochemistry. … I found this book to be an excellence reference text that would be a very appropriate addition to any paediatrician’s library." (JC Coakley, Journal of Paediatrics and Child Health, Vol. 39 (8), 2003)
"This book, aimed at clinicians and laboratory personnel, describes the pathogenesis, clinical characteristics and laboratory diagnosis of the many known metabolic diseases. … The text is concise with many tables and figures. …A very useful book for every pediatric department." (Journal of Pediatric Endocrinology & Metabolism, Vol. 16 (2), 2003)
Commentaire
From the reviews of the second edition:
"This book provides a summary text which condenses a wealth of information into a readily accessible form. ... All paediatricians could benefit by using this book as an authoritative summary on metabolic disease. ... The book would also be of great value to scientists and chemical pathologists working in the field of paediatric clinical biochemistry. ... I found this book to be an excellence reference text that would be a very appropriate addition to any paediatrician's library." (JC Coakley, Journal of Paediatrics and Child Health, Vol. 39 (8), 2003)
"This book, aimed at clinicians and laboratory personnel, describes the pathogenesis, clinical characteristics and laboratory diagnosis of the many known metabolic diseases. ... The text is concise with many tables and figures. ...A very useful book for every pediatric department." (Journal of Pediatric Endocrinology & Metabolism, Vol. 16 (2), 2003)
