Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes,Jean-Marie Saudubray,N. R. M. Buist Book 19952nd edition Springer-Verlag Ber

核心

ureter

itinerary

TERRA

和平主义

树上结蜜糖

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

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hangdog

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

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: