Results 141 to 150 of about 5,746 (195)

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]

Orphanet J Rare Dis
Parvini F, Ajam-Hosseini M, Shadpour M.
europepmc   +1 more source

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1. [PDF]

J Med Chem
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau AC, Delgado A, Garcia-Collazo AM, Martinell M, Barril X, Cubero E, Gersting SW.   +11 more
europepmc   +1 more source

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study. [PDF]

Sci Rep
Lin Y, Lin C, Zheng Z, Chen Y, Zheng F, Lin W.   +5 more
europepmc   +1 more source

Nuclear functional role of metabolic enzymes and related metabolites: Focus on gene expression regulation. [PDF]

Mol Metab
Todisco S, Iacobazzi D, Santarsiero A, Convertini P, Infantino V.   +4 more
europepmc   +1 more source

ハムスターにおけるグルコース食による肝コレステロール生合成の亢進とコレステロール胆石の生成について [PDF]

, 1968
MUROYA, HIROHISA
core  

Acyl post-translational modification of proteins by metabolites in cancer cells. [PDF]

Cell Death Discov
Wang X, Guo Y, Fu Y, Zhang C, Chen W, Tang X, Yu Y, Chen Y, Ding G, Zhang J.   +9 more
europepmc   +1 more source

Interplay of YEATS2 and GCDH regulates histone crotonylation and drives EMT in head and neck cancer. [PDF]

Elife
Pant D, Kakani P, Joshi R, Sabu A, Agrawal S, Samaiya A, Shukla S.   +6 more
europepmc   +1 more source

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +1 more source

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile. [PDF]

JIMD Rep
Penicaud R, Ferron JB, Valette X, Bauduin P, Faisant M, Schiff M, Nguyen A, Fontaine F, Allouche S.   +8 more
europepmc   +1 more source

Protein crotonylation in cancer: mechanisms, functions, and therapeutic potential. [PDF]

Cell Biol Toxicol
Han F, Shen W, Zhang X, Du M, Ye Q, Ma J, Hu L.   +6 more
europepmc   +1 more source