Results 81 to 90 of about 2,741,348 (370)

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

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source

PKU dietary handbook to accompany PKU guidelines [PDF]

, 2020
Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
Ahring, K., Beblo, S., Burlina, A., Bélanger-Quintana, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., MacDonald, A., Maillot, F., Muntau, A. C., Rocha, J. C., Rocha, J. C., Romani, C., Trefz, F., Van Spronsen, F. J., Van Wegberg, A. M.J.   +18 more
core   +6 more sources

Condução inicial de paciente com erro inato do metabolismo em hospital de pequeno porte [PDF]

Residência Pediátrica
Propionic acidemia is part of the organic acidemias that constitute a group of inherited autosomal recessive diseases caused by the deficiency of enzymes involved in the catabolism of branched-chain amino acids resulting in the tissue accumulation of one
Carla Diniz Dias Fernandes, Yasmin Lima Witzel, Laryssa Gomes Heredia, Carolina Toledo Scarpa, Karina Paula Borges, Rosa Cristina Coutinho   +5 more
doaj   +1 more source

The Dynamics of Hybrid Metabolic-Genetic Oscillators [PDF]

Chaos. 2013 Mar;23(1):013132, 2013
The synthetic construction of intracellular circuits is frequently hindered by a poor knowledge of appropriate kinetics and precise rate parameters. Here, we use generalized modeling (GM) to study the dynamical behavior of topological models of a family of hybrid metabolic-genetic circuits known as "metabolators." Under mild assumptions on the kinetics,
arxiv   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

JIMD Reports, 2022
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner   +19 more
doaj   +1 more source

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics

ESC Heart Failure, EarlyView.
Systematic approach to dilated cardiomyopathy diagnosis. Dilated cardiomyopathy is a clinical diagnosis characterized by the presence of left ventricular dilatation and systolic disfunction unexplained by abnormal loading conditions or coronary artery disease.
Kristian Galanti, Ghaith Sharaf Dabbagh, Fabrizio Ricci, Sabina Gallina, Roberta Giansante, Ron Jacob, Edmond Obeng‐Gyimah, Leslie T. Cooper Jr, Sanjay K. Prasad, David H. Birnie, Andrew P. Landstrom, Selma F. Mohammed, Saidi Mohiddin, Mohammed Y. Khanji, Anwar A. Chahal   +14 more
wiley   +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