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Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders

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Metabolism, Inborn errors of --- Genetic screening --- Congresses --- -Genetic screening --- -Human chromosome abnormalities --- Medical screening --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Diagnosis --- Disorders --- -Congresses --- Human chromosome abnormalities --- Metabolism, Inborn errors of - Congresses --- Genetic screening - Congresses

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This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Metabolism, Inborn errors of --- Metabolism, Inborn errors of. --- Diagnosis. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders --- Diseases. --- Clinical biochemistry. --- Pediatrics. --- Medicine --- Biology --- Medical genetics. --- Medical Biochemistry. --- Biomedical Research. --- Medical Genetics. --- Research.

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Metabolism, Inborn errors of --- Metabolism, Inborn Errors. --- Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Metabolism Errors, Inborn --- Inborn Errors of Metabolism --- Error, Inborn Metabolism --- Errors Metabolism, Inborn --- Errors Metabolisms, Inborn --- Errors, Inborn Metabolism --- Inborn Errors Metabolism --- Inborn Errors Metabolisms --- Inborn Metabolism Error --- Inborn Metabolism Errors --- Metabolism Error, Inborn --- Metabolism Inborn Error --- Metabolism Inborn Errors --- Metabolisms, Inborn Errors --- Metabolic Diseases --- congenital --- biochemistry --- cell biology --- endocrinology --- genetics --- inborn errors --- neonatalogy --- Genetic disorders --- Metabolism --- Disorders --- Metabolic & Nutritional Diseases --- Human medicine

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