Results 111 to 120 of about 8,189 (189)

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. [PDF]

Mol Genet Genomic Med, 2021
Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB.   +5 more
europepmc   +1 more source

Methylmalonic aciduria

, 2019
Metilmalonska acidurija je naziv za pojačano izlučivanje metilmalonske kiseline urinom čemu u podlozi može biti skupina rijetkih, autosomno recesivnih bolesti koje nastaju zbog poremećaja u razgradnji aminokiselina razgranatog lanca.
Šikić, Katarina
core  

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant. [PDF]

Clin Epigenetics
Škopková M, Kabelíková P, Andrésová A, Brennerová K, Dallemule S, Sabo M, Petrovič R, Gašperíková D.   +7 more
europepmc   +1 more source

Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients. [PDF]

J Inherit Metab Dis
Heinken A, Awada H, Zanotelli VRT, Froese DS, Guéant-Rodriguez RM, Guéant JL.   +5 more
europepmc   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA). [PDF]

JIMD Rep
Gragnaniello V, Galderisi A, Tucci S, Doimo M, Caterino M, Loro C, Cazzorla C, Ruoppolo M, Salviati L, Burlina AB.   +9 more
europepmc   +1 more source

Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria. [PDF]

Sci Rep
Köpfer F, Bartosova Medvid M, Fleming T, Pfeffer T, Okun JG, Kölker S, Hoffmann GF, Schmitt CP, Morath M, Peters V.   +9 more
europepmc   +1 more source

The Structural Basis for Methylmalonic Aciduria [PDF]

Journal of Biological Chemistry, 2004
Vivian Saridakis, Alexander Yakunin, Xiaohui Xu, Ponni Anandakumar, Micha Pennycooke, Jun Gu, Frederick Cheung, Jocelyne M. Lew, Ruslan Sanishvili, Andrzej Joachimiak, Cheryl H. Arrowsmith, Dinesh Christendat, Aled M. Edwards   +12 more
openaire   +1 more source

A Multi-Omics Framework for Decoding Disease Mechanisms: Insights From Methylmalonic Aciduria. [PDF]

Mol Cell Proteomics
Fu J, Zanotelli VRT, Howald C, Chammartin N, Kolpakov I, Xenarios I, Froese DS, Wollscheid B, Pedrioli PGA, Goetze S.   +9 more
europepmc   +1 more source

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target. [PDF]

J Inherit Metab Dis
Zeyer KA, Tholen S, Schilling O, Gerling L, Morath M, Kölker S, Nyström A, Spiekerkoetter U, Schumann A.   +8 more
europepmc   +1 more source

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran. [PDF]

BMC Pediatr
Beyzaei Z, Moravej H, Imanieh MH, Inaloo S, Geramizadeh B.   +4 more
europepmc   +1 more source