Results 101 to 110 of about 8,189 (189)

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria. [PDF]

Sci Rep, 2023
Schumann A, Brutsche M, Havermans M, Grünert SC, Kölker S, Groß O, Hannibal L, Spiekerkoetter U.   +7 more
europepmc   +1 more source

[Methylmalonic aciduria. A case report].

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1982
A Black girl aged 19 months presented with vomiting, dehydration and severe acidosis without apparent cause. Further investigation revealed urinary excretion of large amounts of methylmalonic acid. The literature on methylmalonic aciduria is briefly reviewed. Seven possible biochemical defects have been described.
J C, van Dyk, J L, Meiring, J G, Prinsloo   +2 more
openaire   +1 more source

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism

, 2009
OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and ...
Miousse, Isabelle R., Watkins, David, Rupar, Tony, Enns, Gregory M., Rosenblatt, David S., Lee-Messer, Christopher, Cowan, Tina, Coelho, David, Bernstein, Jonathan A., Fowler, Brian, Crombez, Eric A., Vilain, Eric   +11 more
core   +1 more source

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources? [PDF]

Front Pediatr, 2022
Cui X, Li N, Xue H, Zhang F, Shu J, Liu Y.   +5 more
europepmc   +1 more source

BRAIN DAMAGE IN METHYLMALONIC ACIDURIA: 2-METHYLCITRATE LEADS TO AMMONIA INCREASE AND APOPTOSIS

, 2012
A 3D in vitro model of rat organotypic brain cell cultures in aggregates was used to investigate neurotoxicity mechanisms in methylmalonic aciduria.
Jafari, P., Braissant, O., Henry, H., Ballhausen, D., Bonafe, L., Zavadakova, P.   +5 more
core  

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria. [PDF]

PLoS One, 2022
Liu Y, Chen Z, Kang L, He R, Song J, Liu Y, Shi C, Chen J, Dong H, Zhang Y, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Li M, Jin Y, Qin J, Yang Y.   +19 more
europepmc   +1 more source

Investigation of patients diagnosed with mut methylmalonic aciduria

, 2017
Methylmalonic aciduria is caused by mutations affecting the mitochondrial enzyme methylmalonyl-CoA mutase, the synthesis of its cofactor, adenosylcobalamin, and certain other steps in propionyl-CoA metabolism.
Chu, Jordan
core  

SMAD4 Controls Cancer Cell Metabolism by Regulating Methylmalonic Aciduria Cobalamin Deficiency (cbl) B Type. [PDF]

Mol Cells, 2022
Song K, Lee HS, Jia L, Chelakkot C, Rajasekaran N, Shin YK.   +5 more
europepmc   +1 more source

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. [PDF]

Hum Genet, 2022
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR.   +5 more
europepmc   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. [PDF]

Front Pediatr, 2021
Wang P, Shu J, Gu C, Yu X, Zheng J, Zhang C, Cai C.   +6 more
europepmc   +1 more source