Titlebook: Inherited Metabolic Diseases; A Clinical Approach Georg F. Hoffmann,Johannes Zschocke,William L. Nyh Book 2017Latest edition Springer-Verla

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Disorders of the Biosynthesis and Breakdown of Complex Moleculesd are less likely to cause acute metabolic crises. They are not usually recognized by basic metabolic analyses but require specific investigations for their diagnosis. Disorders of purine and pyrimidine metabolism cause a range of nephrological, neurological, musculoskeletal, hematological, and othe

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善辩

Patient Care and Treatmentrehensive understanding of the molecular basis and the pathophysiological consequences of gene defects. Continuous sympathetic company and guidance of patients and their families are essential for optimal outcome. Inherited metabolic diseases are chronic conditions that involve various different org

整洁漂亮

Inherited Metabolic Diseases in the Context of Rare/Orphan Diseasestening and increasingly treatable diseases. Unchanged is the orphan nature of these disorders. In 1999 the World Health Organization (WHO) declared rare or orphan diseases as a major future health challenge followed by similar initiatives of the European Union. The prevalence was defined as less tha

geriatrician

Structured Communication and Behavioural Medicineication with parents and patients requires teaching skills like explanation by analogy and visualisation. Comprehensive repeated information and counselling is necessary, because treatment has to be executed lifelong by patients and families themselves mostly at home or in their everyday life enviro

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畏缩

Adolescence, Emerging Adulthood, and Problems of Transitione needs survive into adulthood passing through adolescence and young adulthood and may live successful personal and professional lives. Unfortunately, the social and health-care structures needed for successful transition of each of these steps still lack behind with sometimes severe medical consequ

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Metabolic Emergenciesderlying cause. The classic presentation of inborn errors of metabolism is with a free period of apparent health that may last days or even years, but then followed by an overwhelming life-threatening disease. Metabolic decompensation is often precipitated by acute infection and its attendant catabo