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Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C. Arhip L, et al. Orphanet J Rare Dis. 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. Orphanet J Rare Dis. 2024. PMID: 38245797 Free PMC article. Review.
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. ...
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin meta …
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T. Almási T, et al. Orphanet J Rare Dis. 2019 Apr 25;14(1):84. doi: 10.1186/s13023-019-1063-z. Orphanet J Rare Dis. 2019. PMID: 31023387 Free PMC article.
Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. ...
Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically char …
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.
Benato A, Carecchio M, Burlina A, Paoloni F, Sartori S, Nosadini M, d'Avella D, Landi A, Antonini A. Benato A, et al. J Neural Transm (Vienna). 2019 Jun;126(6):739-757. doi: 10.1007/s00702-019-02010-2. Epub 2019 May 10. J Neural Transm (Vienna). 2019. PMID: 31076915
In addition, we present the results of a systematic literature review aimed at identifying published cases of SD treated with DBS, with focus on motor outcome. In our cohort, two children were affected by methylmalonic acidemia and suffered acute basal ganglia lesio …
In addition, we present the results of a systematic literature review aimed at identifying published cases of SD treated with DBS, with focu …