核心 发表于 2025-3-27 00:21:25
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http://reply.papertrans.cn/47/4632/463196/463196_34.png和平主义 发表于 2025-3-27 14:34:39
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Diagnostic Procedures: Function Tests and Postmortem Protocolnical Approach to Inherited Metabolic Diseases.” If no material is available or if the results are incomplete or ambiguous, a function test which challenges a metabolic route may provide a tentative diagnosis.connoisseur 发表于 2025-3-27 23:32:57
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http://reply.papertrans.cn/47/4632/463196/463196_38.pnghangdog 发表于 2025-3-28 10:00:50
Hyperphenylalaninaemiasuction and excretion of phenylketones and phenylamines (due to a combination of transamination, decarboxylation and deamination). The term “.” (or PKU) is often reserved, rather illogically, for more severe forms of deficiency in the enzyme phenylalanine hydroxylase in which urinary phenylketones are easy to detect by simple chemical methods.Blazon 发表于 2025-3-28 11:01:40
Clinical Approach to Inherited Metabolic Diseasesiding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of generally accepted ideas contribute to this difficulty: