Results 61 to 70 of about 148,305 (130)

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Heliyon
Dihydroorotate dehydrogenase (DHODH) catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway. Miller syndrome, also known as postaxial acrofacial dysostosis, is caused by biallelic pathogenic variants in DHODH. We present a patient
Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht   +7 more
doaj  

Antiepileptic drugs, folate one‐carbon metabolism, genetics, and epigenetics: Congenital, developmental, and neuropsychological risks and antiepileptic action

Epilepsia, Volume 65, Issue 12, Page 3469-3473, December 2024.
Edward H. Reynolds
wiley   +1 more source

Reconciling metabolic scaling theory with observed variation in self-thinning trajectories: the relative roles of individual ontogeny, mode of competition, and resource limitation [PDF]

arXiv, 2011
This paper has been withdrawn by the author due to a crucial error in mathematical derivation and copyrights.
arxiv  

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases [PDF]

, 2023
Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for a ...
de Barse, Martina M J, De Gruyter, Fini E, de Sain-van der Velden, Monique G M, Jans, Judith J M, Pras-Raves, Mia L, Prinsen, Hubertus C M T, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, van der Ham, Maria, van Hoek, Ilja N, Verhoeven-Duif, Nanda M, Willems, Anke P   +11 more
core  

Translating the future: Image-to-image translation for the prediction of future brain metabolism [PDF]

Medical Imaging 2024: Clinical and Biomedical Imaging
Alzheimer's disease (AD) is a progressive neurodegenerative disorder leading to cognitive decline. [$^{18}$F]-Fluorodeoxyglucose positron emission tomography ([$^{18}$F]-FDG PET) is used to monitor brain metabolism, aiding in the diagnosis and assessment of AD over time.
arxiv   +1 more source

Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases [PDF]

, 2017
In recent years, a substantial body of evidence has emerged demonstrating that purine and pyrimidine synthesis and metabolism play major roles in controlling embryonic and fetal development and organogenesis.
D. Lecca, M. Fumagalli, M.P. Abbracchio, S. Ceruti   +3 more
core   +2 more sources

Robust generation of elementary flux modes [PDF]

arXiv, 2015
Elementary flux modes (EFMs) are vectors defined from a metabolic reaction network, giving the connections between substrates and products. EFMs-based metabolic flux analysis (MFA) estimates the flux over each EFM from external flux measurements through least-squares data fitting.
arxiv  

CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports [PDF]

arXiv
Rare diseases, including Inborn Errors of Metabolism (IEM), pose significant diagnostic challenges. Case reports serve as key but computationally underutilized resources to inform diagnosis. Clinical dense information extraction refers to organizing medical information into structured predefined categories.
arxiv  

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes [PDF]

, 2016
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities.
Abulhoul, L, Anderson, G, Beesley, C, Boustred, C, Broomfield, A, Clayton, PT, Cleary, M, Drury, S, Gissen, P, Grunewald, S, Jacques, TS, Lench, N, Mills, PB, Papandreou, A, Rahman, S, Reid, ES, Varadkar, SM, Wedatilake, Y, Yue, WW   +18 more
core   +2 more sources

The untapped power of a general theory of organismal metabolism [PDF]

arXiv
What makes living things special is how they manage matter, energy, and entropy. A general theory of organismal metabolism should therefore be quantified in these three currencies while capturing the unique way they flow between individuals and their environments. We argue that such a theory has quietly arrived -- 'Dynamic Energy Budget' (DEB) theory --
arxiv