Results 181 to 190 of about 2,741,348 (370)

D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]

, 1987
M. Durán, F. A. Beemer, L. Bruinvis, D. Ketting, S.K. Wadman   +4 more
openalex   +1 more source

Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging

Cell Proliferation, EarlyView.
Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi, Hengjie Wang, Shuai Zhu, Minjian Chen, Xuejiang Guo, Qiang Wang, Ling Gu   +6 more
wiley   +1 more source

The many roads to dementia: a systems view of Alzheimer's disease [PDF]

arXiv
Alzheimer's disease is not the outcome of a single cause but the convergence of many. This review reframes dementia as a systemic failure, where amyloid plaques and tau tangles are not root causes but late-stage byproducts of the underlying metabolic collapse.
arxiv  

ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]

, 1989
A Green
openalex   +1 more source

Cerebellar haemorrhage and atrophy in infants born extremely preterm with intraventricular haemorrhage

Developmental Medicine &Child Neurology, Volume 67, Issue 5, Page 609-617, May 2025.
This study investigates the impact of cerebellar hemorrhage (CBH) and atrophy in extremely preterm infants with intraventricular hemorrhage (IVH) on neurodevelopment at two years of age. Findings reveal that CBH is a significant predictor of impaired cognitive and motor outcomes, with cerebellar atrophy further exacerbating developmental delays.
Julia Buchmayer, Renate Fuiko, Patric Kienast, Sophie Stummer, Gregor Kasprian, Angelika Berger, Katharina Goeral   +6 more
wiley   +1 more source

Boolean matrix logic programming for active learning of gene functions in genome-scale metabolic network models [PDF]

arXiv
Techniques to autonomously drive research have been prominent in Computational Scientific Discovery, while Synthetic Biology is a field of science that focuses on designing and constructing new biological systems for useful purposes. Here we seek to apply logic-based machine learning techniques to facilitate cellular engineering and drive biological ...
arxiv  

Recent Advances in Inborn Errors of Metabolism [PDF]

, 1988

openalex   +1 more source

Natural history of SGCE‐associated myoclonus dystonia in children and adolescents

Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 740-749, June 2025.
Children and adolescents with SGCE‐associated myoclonus dystonia showed a progression of motor symptoms during a mean follow‐up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing.
Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín, Julia Ferrero‐Turrión, David Gómez‐Andrés, Anna Marcé‐Grau, Lucía Dougherty‐de Miguel, Victoria González, Antonio Moreno‐Galdó, Marina A. J. Tijssen, Belén Pérez‐Dueñas   +11 more
wiley   +1 more source

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]

, 1988
Shuichi Yamaguchi
openalex   +1 more source