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

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Mammal

978-3-662-57008-1Springer-Verlag Berlin Heidelberg 2017

AROMA

https://doi.org/10.1007/978-3-662-49410-3DNA; Dietary Therapy; Enzyme Replacement Therapy; Gene Therapy; Inborn Errors of Metabolism; Metabolic Em

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When to Suspect Metabolic DiseaseThe spectrum of clinical presentations of metabolic disease is quite broad. Clues leading to an investigation by the clinician come from the history and physical examination, as well as from initial laboratory results. Acidosis, alkalosis, and hyperammonemia are alerting signals. Changes in the color of a diaper may be key.

cardiac-arrest

Patient and Family AssociationsA voluntary organisation can provide many support services to patients and families. These associations are normally a registered charity or not for profit organisation, and the primary criterion is that it exists solely and exclusively for charitable purposes. Some of the services provided are outlined below.

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