Results 151 to 160 of about 5,871 (233)

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +1 more source

Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement. [PDF]

Int J Mol Sci
Holeček 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

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

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  

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
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

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

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases. [PDF]

World J Pediatr
Huang XW, Zhang T, Hu ZZ, Wang ZG, Luo XP, Yang YL, Han LS, Gu XF, Xiao GR, Zhu BS, Yang RL, Wang WP, Huang YL, Jiang JH, Wang H, Tian GL, Sun QL, Mao XM, Yu B, Zhu WB, Chen PL, Hu HL, Yan HM, Liu J, Nie WY, Wang F, Cai R, Jiang T, Wang XH, Xu FL, Zhou YL, Yang JP, Zou L, Wen W, Kong YY, Ou MC, Zhang YG, Ying YQ, Qiang R, Zhao DH, Jia CL, Zhang ZX, Wu BQ, Zou H, Zhao ZY.   +44 more
europepmc   +1 more source