Results 111 to 120 of about 26,055 (351)

Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]

, 1909

openalex   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes. [PDF]

BMJ Case Rep, 2022
Olety P, Safwan GM, Shenoy RD.
europepmc   +1 more source

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria [PDF]

, 2018
Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11months of age, during an intercurrent illness.
Ballhausen, Diana, Bonafé, Luisa, Boulat, Olivier, Jakobs, Cornelis, Jequier Gygax, Marine, Meagher-Villemure, Kathleen, Roulet-Perez, Eliane, Salomons, Gajja, Superti-Furga, Andrea   +8 more
core  

Deep phenotyping of heart failure with preserved ejection fraction through multi‐omics integration

European Journal of Heart Failure, EarlyView.
Deep phenotyping of of heart failure with preserved ejection fraction (HFpEF) through multi‐omics integration. AI, artificial intelligence. Aims Heart failure with preserved ejection fraction (HFpEF) has become the predominant form of heart failure and a leading cause of global cardiovascular morbidity and mortality.
Jakob Versnjak, Titus Kuehne, Pauline Fahjen, Nina Jovanovic, Ulrike Löber, Gabriele G. Schiattarella, Nicola Wilck, Holger Gerhardt, Dominik N. Müller, Frank Edelmann, Philipp Mertins, Roland Eils, Michael Gotthardt, Sofia K. Forslund, Benjamin Wild, Marcus Kelm   +15 more
wiley   +1 more source

Correction of congenital hyperbilirubinemia in homozygous Gunn rats by xenotransplantation of hamster livers [PDF]

, 1997
The homozygous Gunnj/jrat is an animal model for Crigler-Najjar syndrome in which the lack of the enzyme uridine diphosphoglucoronate-glucuronosyltransferase (UDP-GT) results in congenital unconjugated nonhemolytic hyperbilirubinemia. Because the binding
Asonuma, Branchereau, Celli, Cobourn, Esquivel, Esquivel, Groth, Heirwegh, Holzman, Kamada, Kashiwagi, Malatack, Medley, Moscioni, Ostrow, Reichen, Roy Chowdhury, Roy Chowdhury, Snyder, Starzl, Starzl, Starzl, Starzl, Starzl, Sutherland, Valdivia, Valdivia, Vroemen   +27 more
core   +1 more source

Morquio-Ullrich's Disease: An Inborn Error of Metabolism? [PDF]

, 1962
H Dyggve, J Melchior, J. Clausen
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Research progress on renal calculus associate with inborn error of metabolism. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023
Song Y, Zhao C, Li D.
europepmc   +1 more source

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis [PDF]

, 2017
Selenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to the MTO in methylotrophic bacteria, that converts methanethiol to H2O2 ...
Araiza, Renee S., Brouwer, Arjan P. M. de, Camp, Huub J. M. op den, Engelke, Udo F., Gilissen, Christian, Heuvel, Lambert van den, Lloyd, Kent C., Olbrich, Heike, Omran, Heymut, Oude Elberink, Marijn, Pol, Arjan, Renkema, G. Herma, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Sequeira, J. Silvia, Tangerman, Albert, Venselaar, Hanka, Wevers, Ron A., Winkel, Edwin G.   +20 more
core   +2 more sources