Ratnaike S, Blake D
Department of Biochemistry, Royal Melbourne Hospital, Parkville, Victoria.
Pathology. 1995 Apr;27(2):142-53. doi: 10.1080/00313029500169762.
This review details an approach to the biochemical diagnosis and follow-up of porphyria. We discuss the problems of diagnosis of both symptomatic patients suspected of porphyria and patients being investigated because of a family history of porphyria. High performance liquid chromatography plays a major role in the investigation of these patients. Molecular biology is emerging as a useful tool in further defining this group of diseases.
本综述详细介绍了卟啉病的生化诊断及随访方法。我们讨论了疑似卟啉病的有症状患者以及因卟啉病家族史而接受调查的患者的诊断问题。高效液相色谱法在这些患者的调查中起着主要作用。分子生物学正逐渐成为进一步明确这类疾病的有用工具。
