Results 101 to 110 of about 954 (147)

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

The role of lactylation in plasma cells and its impact on rheumatoid arthritis pathogenesis: insights from single-cell RNA sequencing and machine learning. [PDF]

Front Immunol
Fu W, Wang T, Lu Y, Shi T, Yang Q.
europepmc   +1 more source

KCTD1 regulation of Adenylyl cyclase type 5 adjusts striatal cAMP signaling. [PDF]

Proc Natl Acad Sci U S A
Liao Y, Muntean BS.
europepmc   +1 more source

Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine. [PDF]

Stem Cell Res Ther
Lee CJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

Agarwood essential oils alleviate hypoxia-induced gastric and small intestinal injury. [PDF]

AMB Express
Wang X, Liao X, Wang X, Zhang M, Shen Z, Wang D, Sheng J.   +6 more
europepmc   +1 more source

Free oligosaccharides in serum. [PDF]

BBA Adv
Huang C, Honda A, Suzuki T.
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

3-Dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 Deficiency and a Neurotypical Individual

Case Reports in Clinical Medicine
Charles S. Layne, C. Malaya, Brock Futrell, Dacia Martínez Díaz, Christian Alfaro, Hannah E. Gustafson, Subhalakshmi Chandrasekaran, R. M. Phatak, Bernhard Suter   +8 more
semanticscholar   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC.   +7 more
europepmc   +1 more source