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Metabolism, Inborn errors of

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This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Metabolism, Inborn errors of.

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Metabolism, Inborn errors of --- Enzymes --- Medical genetics

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Precision nutrition is an emerging concept encompassing an integrated action considering not only the genetic/epigenetic makeup and ethnic aspects of individuals, but other personalized phenotypical features, such as family and individual clinical issues, previous diseases and therapeutic treatments, perinatal nutrition, food likes/dislikes, allergies/intolerances, lifestyle attitudes and patterns, social and cultural circumstances or religious beliefs, etc. In this context, chronic disease prevalence is a global public health problem itself, which is also accompanied by a number of complications, including insulin resistance, hypertension, hypercholesterolemia, fatty liver, inflammation, oxidative status and immunocompetence disturbances, and other adverse manifestations related to metabolic syndrome, which may need individualized nutritional approaches. Therefore, the current Special Issue attempts to provide specific nutritional strategies to prevent or treat the complications associated with metabolic syndrome features concerning diabetes, vascular events, liver diseases, dyslipemia, and cancer with a precision nutrition scope.

Metabolism --- Metabolism, Inborn errors of. --- Disorders.

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Gout. --- Podagra --- Arthritis --- Metabolism, Inborn errors of --- Rheumatism