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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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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Metabolism --- Metabolism, Inborn errors of. --- Medicine --- Disorders. --- Research. --- Biomedical research --- Medical research --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Disorders --- Human genetics. --- Metabolic diseases. --- Pediatrics. --- Human physiology. --- Human Genetics. --- Metabolic Diseases. --- Human Physiology. --- Human biology --- Medical sciences --- Physiology --- Human body --- Paediatrics --- Pediatric medicine --- Children --- Genetics --- Heredity, Human --- Physical anthropology --- Health and hygiene

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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Metabolism --- Metabolism, Inborn errors of. --- Medicine --- Disorders. --- Research. --- Biomedical research --- Medical research --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Disorders --- Human genetics. --- Metabolic diseases. --- Pediatrics. --- Human physiology. --- Human Genetics. --- Metabolic Diseases. --- Human Physiology. --- Human biology --- Medical sciences --- Physiology --- Human body --- Paediatrics --- Pediatric medicine --- Children --- Genetics --- Heredity, Human --- Physical anthropology --- Health and hygiene

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• Reference Manager
• EndNote
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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Diagnosis, Differential. --- Metabolism, Inborn errors of -- Genetics. --- Metabolism, Inborn errors of -- Research. --- Metabolism, Inborne errors of. --- Biology --- Medicine --- Health & Biological Sciences --- Genetics --- Pathology --- Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Medicine. --- Human genetics. --- Human physiology. --- Metabolic diseases. --- Pediatrics. --- Biomedicine. --- Human Genetics. --- Metabolic Diseases. --- Human Physiology. --- Genetic disorders --- Metabolism --- Disorders --- Human biology --- Medical sciences --- Physiology --- Human body --- Paediatrics --- Pediatric medicine --- Children --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Heredity, Human --- Physical anthropology --- Health and hygiene