AMASS 发表于 2025-3-21 18:34:47

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规范要多 发表于 2025-3-21 23:59:29

Diagnostic Procedures: Function Tests and Postmortem Protocolor consumption of a nutrient for which a metabolic intolerance exists. As discussed in Chap. 1, if symptoms lead one to suspect the existence of an inborn metabolic disease, blood, urine, and cerebrospinal fluid should be investigated and/or stored in the correct way to perform the emergency protoco

epidermis 发表于 2025-3-22 01:42:12

Emergency Treatmentsns and management mainly depend on the physiopathology involved. However, this chapter focuses on the main age-related clinical presentations in neonates and children for which emergency treatment can be life saving. In neonates, four main clinical presentations can be identified.

或者发神韵 发表于 2025-3-22 08:04:55

Psychosocial Care of the Child and Familye been identified. Increasingly, physicians have come to recognize the complexities of psychosocial care for children with inborn errors of metabolism. Although the special features of each condition dictate an individualized treatment approach, there are general issues of adaptation to the illness,

群居动物 发表于 2025-3-22 10:43:39

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注视 发表于 2025-3-22 16:02:07

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ARK 发表于 2025-3-22 20:21:14

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准则 发表于 2025-3-23 00:01:26

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按等级 发表于 2025-3-23 02:57:00

Persistent Hyperinsulinemic Hypoglycemiaon of insulin is responsible for profound hypoglycemias, which require aggressive treatment to prevent severe and irreversible brain damage. A combination of glucose and glucagon is started as an emergency treatment as soon as a tentative diagnosis of PHHI is made. It is followed by treatment with d

palliative-care 发表于 2025-3-23 07:41:37

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects of pyruvate metabolism and of the TCA cycle almost invariably affect the central nervous system. The severity and patterns of clinical phenotypes vary tremendously among affected patients and are not specific, with the range of manifestations extending from overwhelming neonatal la
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查看完整版本: Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes (Professor Emeritus of Pediatrics), Book 20003rd edition Springer-Verlag Ber