Results 131 to 140 of about 7,812 (191)

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics. [PDF]

Mol Med
Du M, Li M, Wu S, Wu X, Chen Y, Zhu C.
europepmc   +1 more source

Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review. [PDF]

J Pers Med
Ramirez J, Leal-Witt MJ, Cabello JF, Cornejo V.   +3 more
europepmc   +1 more source

Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China. [PDF]

Front Neurol
Fan C, Xu L, Gan S, Wu L, Yang H, Ning Z.   +5 more
europepmc   +1 more source

Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations. [PDF]

Orphanet J Rare Dis
Zhao W, Zhang Y, Pi Y, Li Y, Zhang H.
europepmc   +1 more source

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia. [PDF]

JIMD Rep
Woidy M, Tsiakas K, Mahmud M, Eich G, Loos S, Lisfeld J, Schultz S, Tallarek AC, Hecher K, Huber TB, Muntau AC, Gramer G.   +11 more
europepmc   +1 more source

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