Results 31 to 40 of about 12,046 (150)

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. [PDF]

BMC Pregnancy Childbirth, 2019
Grandone E, Martinelli P, Villani M, Vecchione G, Fischetti L, Leccese A, Santacroce R, Corso G, Margaglione M.   +8 more
europepmc   +3 more sources

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. [PDF]

Hum Mol Genet, 2023
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria (MMAuria), present unique challenges to energetic homeostasis by disrupting energy producing pathways. To better understand global responses to energy shortage, we
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH.   +23 more
europepmc   +2 more sources

Renal Involvement in Methylmalonic Aciduria [PDF]

Kidney International Reports, 2017
Ahmed M. Alkhunaizi, Nouriya Al-Sannaa
doaj   +2 more sources

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

BMC Pediatr
Methylmalonic acidemia (MMAs) is known as a severe, complex, and lethal disorder of methylmalonate and cobalamin. The patients with MMA may have developmental, neurological, and metabolic disorders such as liver disease.
Beyzaei Z, Moravej H, Imanieh MH, Inaloo S, Geramizadeh B.   +4 more
europepmc   +2 more sources

Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review. [PDF]

J Clin Med
Background: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and ...
Pintus G, Vitturi N, Carraro G, Lenzini L, Gugelmo G, Fasan I, Madinelli A, Burlina A, Avogaro A, Calò LA.   +9 more
europepmc   +2 more sources

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

Mol Cells, 2022
Suppressor of mothers against decapentaplegic homolog (SMAD) 4 is a pluripotent signaling mediator that regulates myriad cellular functions, including cell growth, cell division, angiogenesis, apoptosis, cell invasion, and metastasis, through ...
Song K, Lee HS, Jia L, Chelakkot C, Rajasekaran N, Shin YK.   +5 more
europepmc   +2 more sources

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report [PDF]

J Korean Med Sci, 2023
Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids.
Lee J, Oh A.
europepmc   +2 more sources

Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria [PDF]

, 2022
Ramon C, Traversi F, Bürer C, Froese DS, Stelling J.   +4 more
europepmc   +2 more sources

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

Mol Genet Genomic Med, 2021
Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions.
Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB.   +5 more
europepmc   +2 more sources

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria

Journal of Inherited Metabolic Disease, 2023
Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long‐term complications, such as optic neuropathy, pancreatic involvement, developmental disability ...
A. Chakrapani, J. Stojanovic, R. Vara, Francesca De Nictolis, M. Spada, C. Dionisi-Vici   +5 more
semanticscholar   +1 more source