Thiamine-responssive maple syrup urine disease due to BCKDHA mutations :a case report

Chinese Journal of Evidence -Based Pediatric ›› 2016, Vol. 11 ›› Issue (1): 75-77.

Thiamine-responssive maple syrup urine disease due to BCKDHA mutations :a case report

ZHANG Wei-hua¹, DING Cang-hong¹, FANG Fang¹, HUANG Li², YANG Nan³

1 Beijing Children's Hospital, Capital Medical College, Beijing 100045; 2 Medical School, Peking University, Bejing 100191; 3 Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100020

Received:2015-07-12 Revised:2016-02-23 Online:2016-02-05 Published:2016-02-05
Contact: DING Chang-hong

Abstract

ZHANG Wei-hua, DING Cang-hong, FANG Fang, HUANG Li, YANG Nan. Thiamine-responssive maple syrup urine disease due to BCKDHA mutations :a case report[J]. Chinese Journal of Evidence -Based Pediatric, 2016, 11(1): 75-77.

Thiamine-responssive maple syrup urine disease due to BCKDHA mutations :a case report

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