Results 91 to 100 of about 2,810 (170)

Methylmalonic acidemia with homocystinuria [PDF]

, 2020
openaire   +1 more source

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia. [PDF]

BMC Pediatr
Abd Elbaky MA, Shehata M, Abdelkhalek K, Girgis MY, Elmonem MA.   +4 more
europepmc   +1 more source

Case Report: Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia. [PDF]

Front Pediatr
Ma Q, Luo Y, Zhang X, Xu L, Shi D, Shi M, Yu D.   +6 more
europepmc   +1 more source

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia. [PDF]

JCI Insight
Hemmingsen MG, Zhang GF, Ma Y, Marchuk H, Patel KR, Chen T, Li X, Chapman M, Collias S, Lopez-Terrada DH, Beasley J, Stiles AR, Chandler RJ, Venditti CP, Young SP, Barzi M, Bissig-Choisat B, Krafte D, Newgard CB, Bissig KD.   +19 more
europepmc   +1 more source

Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel <i>MMUT</i> Variants. [PDF]

Diagnostics (Basel)
Masri M, Khalid N, Salleh N, Lua SH, Abdul Azize NA, Yakob Y, Ali EZ, Munusamy VA, Ngu LH, Lee JS, Toh TH, Habib A.   +11 more
europepmc   +1 more source

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

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