Results 231 to 240 of about 42,467 (260)

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Peak V̇O2Q${\dot V_{{{\mathrm{O}}_2}{\mathrm{Q}}}}$: A new approach for the interpretation of cardiorespiratory fitness estimates

Experimental Physiology, EarlyView.
Abstract There are difficulties with the standardisation of interpretative strategies for peak oxygen uptake (peak V̇O2${\dot V_{{{\mathrm{O}}_2}}}$) related to the quality of reference equations. We aimed to investigate the utility of peak V̇O2Q${\dot V_{{{\mathrm{O}}_2}{\mathrm{Q}}}}$, a novel method reflecting how far a measured value is from the ...
Ben Knox‐Brown, Joshua Barnes, Chris Harding, Jonathan Fuld, Karl P. Sylvester   +4 more
wiley   +1 more source

Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data. [PDF]

Cells
Jurczuk A, Bałdyga P, Płoński A, Jurczuk M, Garley M.   +4 more
europepmc   +1 more source

The RhoA guanine exchange factor ABR: a glucose‐sensitive mediator of actin reorganization in feto‐placental arterial endothelial cells altered by gestational diabetes mellitus

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic representation of proposed relationship between hyperglycaemia, gestational diabetes mellitus (GDM), active BCR‐related (ABR), RhoA and actin organization of feto‐placental arterial endothelial cells (fpEC). Hyperglycaemia upregulates ABR, which in turn increases RhoA activation.
Silvija Tokic, Boris Novakovic, Barbara Leopold‐Posch, Magdalena Mühlberger, Denise Hoch, Jelena Lögl, Eva M. Bernhart, Richard Saffery, Gernot Desoye, Ursula Hiden   +9 more
wiley   +1 more source

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source

Root trait dynamics of historical canola varieties under low and high nitrogen supply

The Plant Phenome Journal, Volume 9, Issue 1, December 2026.
Abstract Nitrogen fertilizer is a major input cost in crop production, making it crucial to enhance nitrogen use efficiency (NUE) to reduce fertilizer dependence without compromising yields. Root system architecture (RSA) is a key determinant of nutrient acquisition, particularly under nutrient‐limited conditions.
Shankar Pahari, Raju Soolanayakanahally
wiley   +1 more source

Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency. [PDF]

Ann Intern Med Clin Cases
Osundiji MA, Chen A, Farris JD, Dhamija R.   +3 more
europepmc   +1 more source

Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012-2023. [PDF]

Orphanet J Rare Dis
Li MJ, Li Q, Zhao MM, Kim H, Feng RQ, Guo MN, Heng JP, Yang JK, Liu C.   +8 more
europepmc   +1 more source

Corrigendum to Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability [eBioMedicine 99 (2024), 104911]. [PDF]

EBioMedicine
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Merten M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL.   +20 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source