Results 101 to 110 of about 2,810 (170)

First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study. [PDF]

Gene Ther
Bedoyan JK, Morgan T, Sun A, Li H, Gruskin D, Payton M, Chereau F, Swenson ES, Lin Q, Kay MA, Vockley J.   +10 more
europepmc   +1 more source

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood. [PDF]

Mol Genet Metab Rep
Stanescu S, Villate O, Andrade F, Gonzalez-Lamuño D, Bélanger-Quintana A, Arrieta F, Couce ML, Muriel A, Aldamiz-Echevarria L.   +8 more
europepmc   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

Continuous renal replacement therapy in a neonate with methylmalonic acidemia and severe hyperammonemia: A case report. [PDF]

Medicine (Baltimore)
Lin B, Huang Y, Yu Y, Xiong X, Yang C.
europepmc   +1 more source

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]

Ital J Pediatr
Maggio MC, Castana C, Caserta M, Di Fiore A, Siciliano V, Corsello G.   +5 more
europepmc   +1 more source

[Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wei HY, Li DX.
europepmc   +1 more source

Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report. [PDF]

BMC Pediatr
Cheng Y, Zhang A.
europepmc   +1 more source

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia. [PDF]

Orphanet J Rare Dis
Ling IC, Niu DM, Yang CF, Lee CY, Liang SB, Chen YJ.   +5 more
europepmc   +1 more source

A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment. [PDF]

Medicine (Baltimore)
Wang J, Liu L, Wang H.
europepmc   +1 more source

Hydrocephalus Caused by Methylmalonic Acidemia: Clinical Characteristics, Optimal Timing of Surgical Intervention and Health-Related Quality of Life. [PDF]

Neurosurgery
Zhou F, Huo Y, Li Y, Shen L, Liu L, Yao H, Zhang R, Hou X.   +7 more
europepmc   +1 more source