2,8- (DHA) :

Jawad Iqbal Rather1, Mukaresh Fatima1, Muzafar Maqsood Wani1

  • 1Department of Nephrology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar. India.

概括

氨酸基转移酶 (APRT) 缺乏,是一种罕见的遗传疾病,可以导致严重的脏问题,如晶体脏病. 早期诊断和使用香氧化酶抑制剂的治疗可以改善功能.

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