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Suitable for those interested in laboratory diagnosis, this book describes laboratory methodology for diagnosing inborn errors of metabolism.

Biochemical genetics --Laboratory manuals. --- Metabolism, Inborn Errors --diagnosis --Laboratory Manuals. --- Metabolism, Inborn errors of --Diagnosis --Laboratory manuals. --- Molecular Biology --methods --Laboratory Manuals. --- Metabolism, Inborn errors of --- Biochemical genetics --- Biochemistry --- Publication Formats --- Investigative Techniques --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetics --- Genetic Diseases, Inborn --- Metabolic Diseases --- Biology --- Nutritional and Metabolic Diseases --- Publication Characteristics --- Biological Science Disciplines --- Chemistry --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Natural Science Disciplines --- Diseases --- Disciplines and Occupations --- Molecular Biology --- Diagnosis --- Metabolism, Inborn Errors --- Methods --- Laboratory Manuals --- Medicine --- Health & Biological Sciences --- Metabolic & Nutritional Diseases --- Chemical genetics --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Medicine. --- Human genetics. --- Laboratory medicine. --- Metabolic diseases. --- Pediatrics. --- Biochemistry. --- Medicine & Public Health. --- Metabolic Diseases. --- Laboratory Medicine. --- Biochemistry, general. --- Human Genetics. --- Molecular genetics --- Genetic disorders --- Metabolism --- Disorders --- Medical laboratories. --- Paediatrics --- Pediatric medicine --- Children --- Heredity, Human --- Human biology --- Physical anthropology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Medical sciences --- Diagnosis, Laboratory --- Health facilities --- Laboratories --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Health and hygiene --- Composition --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Pathology

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This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category.  Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.

Metabolism, Inborn errors of --- Diagnosis. --- Treatment. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders --- Metabolic diseases. --- Biochemistry. --- Pediatrics. --- Medical laboratories. --- Human genetics. --- Metabolic Diseases. --- Medical Biochemistry. --- Laboratory Medicine. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Diagnosis, Laboratory --- Health facilities --- Laboratories --- Paediatrics --- Pediatric medicine --- Medicine --- Children --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Health and hygiene --- Composition --- Medical biochemistry. --- Laboratory medicine. --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Diagnosis --- Pathology --- Medical biochemistry --- Pathobiochemistry --- Pathological biochemistry --- Biochemistry --- Disorders.

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This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category.  Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.

General biochemistry --- Human biochemistry --- Paediatrics --- Human genetics --- Semiology. Diagnosis. Symptomatology --- Pathological biochemistry --- Pathology of the metabolism --- Human medicine --- klinische chemie --- klinische laboratoria --- medische laboratoriumtechnologie --- medische genetica --- biochemie --- genetica --- pediatrie --- metabolische ziekten

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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. .

Metabolism --- Metabolism, Inborn errors of --- Diagnosis, Laboratory --- Diagnosis, Differential. --- Diagnostics biologiques --- Maladies héréditaires métaboliques --- Diagnostics différentiels --- Disorders --- Diagnosis --- Handbooks, manuals, etc. --- Diagnosis. --- Guides, manuels, etc --- Diagnostic --- Metabolism, Inborn Errors --- Laboratory Techniques and Procedures. --- diagnosis. --- Biochemistry. --- Family medicine. --- Life sciences. --- Medical laboratories. --- Pediatrics. --- Biology --- Chemistry --- Health & Biological Sciences --- Physical Sciences & Mathematics --- Biochemistry --- Biology - General --- Genetic Diseases, Inborn --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Metabolic Diseases --- Investigative Techniques --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Nutritional and Metabolic Diseases --- Diseases --- Clinical Laboratory Techniques --- Diagnosis, Differential --- Laboratory Techniques and Procedures --- Medicine --- Pathology --- Maladies héréditaires métaboliques --- Diagnostics différentiels --- Laboratory medicine. --- General practice (Medicine). --- Biochemistry, general. --- Laboratory Medicine. --- General Practice / Family Medicine. --- Paediatrics --- Pediatric medicine --- Children --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Medical sciences --- Health and hygiene --- Composition --- METABOLISM, INBORN ERRORS --- DIAGNOSIS, DIFFERENTIAL --- LABORATORY TECHNIQUES AND PROCEDURES --- DIAGNOSIS