Results 101 to 110 of about 3,232 (144)

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

New insights into the pathophysiology of methylmalonic acidemia. [PDF]

J Inherit Metab Dis, 2023
Head PE, Meier JL, Venditti CP.
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

CONGENITAL METHYLMALONIC ACIDEMIA: ENZYMATIC EVIDENCE FOR TWO FORMS OF THE DISEASE

, 1969
Grant Morrow, Lewis A. Barness, George J. Cardinale, Robert H. Abeles, Joel G. Flaks   +4 more
openalex   +2 more sources

280. A Partial Deficiency Model of MUT Methylmalonic Acidemia (MMA) Displays Diet Inducible Disease and Sensitivity to Acetaminophen (APAP) [PDF]

, 2013

openalex   +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

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type

, 2012
Katta M. Girisha, Shrikiran Aroor, Osamu Sakamoto, PuthiyaMundyat Gopinath, Kapaettu Satyamoorthy, AbdulMueed Bidchol   +5 more
openalex   +2 more sources

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood. [PDF]

Mol Genet Metab Rep
Stanescu S, Villate O, Andrade F, Gonzalez-Lamuño D, Bélanger-Quintana A, Arrieta F, Couce ML, Muriel A, Aldamiz-Echevarria L.   +8 more
europepmc   +1 more source

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes

, 2020
Maria Sol Collado, Allison J. Armstrong, Matthew W. Olson, Stephen A. Hoang, Nathan Day, Marshall Summar, Kimberly A. Chapman, John E. Reardon, Robert A. Figler, Brian R. Wamhoff   +9 more
openalex   +1 more source