TY - JOUR AU - Chen, Ting AU - Liang, Lili AU - Zhang, Huiwen AU - Ye, Jun AU - Qiu, Wenjuan AU - Xiao, Bing AU - Zhu, Hong AU - Wang, Lei AU - Xu, Feng AU - Gong, Zhuwen AU - Gu, Xuefan AU - Han, Lianshu PY - 2021 DA - 2021/03/10 TI - Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type JO - Orphanet Journal of Rare Diseases SP - 125 VL - 16 IS - 1 AB - Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability of biochemical method for the prenatal diagnosis of cblC defect, we conducted a retrospective study of our 10-year experience at a single center. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01762-z DO - 10.1186/s13023-021-01762-z ID - Chen2021 ER -