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Updated: Mar 12, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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转氨酸酶缺乏症 - - 疾病的自然发展向成年期

Viktoria Bea Horvath1, Konstantinos Tsiakas2, Heiko Brennenstuhl3

  • 1Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.

Molecular genetics and metabolism
|March 10, 2026
PubMed
概括

转阿尔多酶缺乏症是一种罕见的代谢障碍,尽管有早期症状,但在成年人中可能呈现轻度. 早期诊断和监测对于管理进展性肝脏,脏和内分泌问题的关键.

关键词:
严重的肝衰竭是急性肝衰竭.慢性脏疾病 慢性脏疾病过高高纳多托普的 过高纳多托普的 过高纳多托普主义.酸酸盐路径的粉酸盐路径在TALDO1中,TALDO1是什么?转酶缺乏症 转酶缺乏症

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