Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

por Christopher Markham, Caroline Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy, Kenneth E. Remy
Publicado 2021

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

por Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park
Publicado 2021

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

por Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano
Publicado 2021

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

por Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han
Publicado 2021

In vivo genome editing at the albumin locus to treat methylmalonic acidemia

por Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea E. Hurley, William R. Lagor, Gang Bao, Charles P. Venditti
Publicado 2021