questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Acyltransferases
Acetyltransferases
N-terminal acetyltransferases
N-terminal acetyltransferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Acétylation
Tests génétiques
Biopsie
Analyse histologique
Protéines
Marqueurs biologiques
Imagerie médicale
Diagnostic
Symptômes
5
Troubles neurologiques
Anomalies métaboliques
Enzymes
Symptômes cliniques
Dermatologie
Éruptions cutanées
Troubles cognitifs
Métabolisme
Prévention
5
Prévention
Diagnostic précoce
Conseils génétiques
Risque héréditaire
Alimentation
Santé métabolique
Dépistage
Antécédents familiaux
Vaccination
Prévention des maladies
Traitements
5
Thérapie enzymatique
Approches diététiques
Suppléments nutritionnels
Métabolisme
Thérapie génique
Recherche
Médicaments
Fonction enzymatique
Traitements symptomatiques
Gestion des symptômes
Complications
5
Complications neurologiques
Complications métaboliques
Réversibilité
Gestion des complications
Maladies associées
Risque accru
Qualité de vie
Impact sur la santé
Soins palliatifs
Confort du patient
Facteurs de risque
5
Facteurs de risque
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Maladies auto-immunes
Dysfonction enzymatique
Sexe
Différences de genre
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"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferases ?",
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"text": "Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies."
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"@type": "Question",
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"name": "Les biopsies sont-elles nécessaires pour le diagnostic ?",
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"name": "Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?",
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"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
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"@type": "Question",
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"position": 8,
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"position": 9,
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"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en N-terminal acetyltransferases ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent être utiles pour les familles à risque."
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{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement."
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"name": "Des dépistages réguliers sont-ils conseillés ?",
"position": 14,
"acceptedAnswer": {
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"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
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"text": "Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies."
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"name": "Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?",
"position": 16,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les suppléments nutritionnels peuvent-ils aider ?",
"position": 17,
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"name": "La thérapie génique est-elle une option ?",
"position": 18,
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"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer la fonction enzymatique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes."
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"name": "Y a-t-il des traitements symptomatiques disponibles ?",
"position": 20,
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"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
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"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
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"position": 24,
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"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort."
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"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
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"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés."
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
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"position": 28,
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/03/2025
Contenu vérifié selon les dernières recommandations médicales
11 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Bergen, Bergen, Norway.
Department of Biomedicine, University of Bergen, Bergen, Norway.
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
5 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, PA, United States; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: marmor@upenn.edu.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: henriette.aksnes@uib.no.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Centre for Organismal Studies, Heidelberg University, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany. Electronic address: irmi.sinning@bzh.uni-heidelberg.de.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Biophysics, Abramson Family Cancer Research Institute, Graduate Group in Biochemistry and Molecular Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Cyprus Cancer Research Institute, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
VIB-UGent Center for Medical Biotechnology, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
College of Life Sciences, Capital Normal University, Beijing, 100048, China.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, 5020 Bergen, Norway.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
Physical literacy is the motivation, confidence, physical competence, knowledge, and understanding, enabling individuals to value and take responsibility for engagement in physical activities for life...
One hundred and fifty-one secondary school in-season student-athletes completed the PLAY...
Results from the EFA yielded a 7-factor model across the three subsections (environment, physical literacy self-description, relative rankings of literacies) of the PLAY...
The PLAY...
The COVID-19 outbreak is an example of a crisis that triggered an increase in generalized anxiety disorder. The study aims to validate the Polish version of the...
For assessing factor structure of the Polish version of the GAD-7, the data were collected from a sample of 821 adults employed in 4 economic sectors (health care, education, IT, public administration...
The results of a series of confirmatory factor analyses confirmed the unidimensionality of the GAD-7. The values of the composite reliability index and Cronbach's α showed that it is a reliable tool. ...
This study contributes evidence of the validation of the GAD among employees and also confirms the invariance depending on gender and age. The Polish version of the GAD-7 has good psychometric propert...
The use of information and communication technologies by employees of organizations may cause technostress for their users. The sources of technostress in organizations are techno-overload, techno-inv...
The purpose of this research was to determine the psychometric properties of the Polish adaptation of...
In the first study (N = 632), the 8-factor structure of the questionnaire was confirmed by the use of confirmatory factor analysis (CFA). Furthermore, a high internal consistency of the adapted method...
To conclude, it can be stated that the Polish adaptation of the...
This study aimed to explore pharmacists' counseling for dementia by developing a measurement tool based on the Theory of Planned Behavior....
A survey was applied online to community pharmacists; in total, 190 community pharmacists participated in the study. Exploratory factor analysis (EFA), confirmatory factor analysis (CFA), and Mann-Whi...
A six-factor structure was obtained from the EFA, and the CFA confirmed the structure. These factors explained 71.294% of the total variance. The Cronbach's alpha coefficients for the factors ranged f...
The developed measurement tool had a satisfactory construct and convergent and discriminant validities and reliabilities....
The developed measurement tool can be used to investigate pharmacists' self-reported counseling for dementia and can also be applied to the counseling behavior of pharmacists in various health conditi...
The Pediatric Quality of Life Inventory version 4.0 (PedsQL...
The modularity index (Q) is an important criterion for many community detection heuristics used in network psychometrics and its subareas (e.g., exploratory graph analysis). Some heuristics seek to di...
Speaking up about safety issues, termed "safety voice," is a proactive response where people across all levels of the organization express their concerns to prevent physical hazards. An understanding ...
The SVCS and the measurement of safety voice behavior were derived from the Trends in Risk Level in the Norwegian Petroleum Activity questionnaire. The SVCS includes the two theoretical dimensions Wor...
Confirmatory factor analyses supported the proposed two-factor model, and the internal consistency of the factors was good. Furthermore, a structural equation model including the SVCS as predictors of...
The HEXACO model divides the space of personality into six main dimensions: Honesty-Humility, Emotionality, eXtraversion, Agreeableness (vs. anger), Conscientiousness, and Openness to Experience. Desp...
Hate-motivated behavior (HMB) comprises a continuum ranging from microaggressions to criminal acts. The measurement of HMB is limited primarily to one or two minoritized groups in any given instrument...
As network models of eating disorder (ED) psychopathology become increasingly popular in modeling symptom interconnectedness and identifying potential treatment targets, it is necessary to contextuali...
We tested the structure of the Eating Pathology Symptoms Inventory (EPSI) and Eating Disorder Examination-Questionnaire (EDE-Q) in Recovery Record, Inc. mobile phone application users (N = 6856)....
Although all models fit well, results favored a hybrid latent variable and network framework, which showed that ED symptoms fit best when modeled as higher-order constructs, rather than direct symptom...
Integrating latent variable and network model frameworks enables tests of centrality to identify important latent variables, such as purging, that may promote the spread of ED psychopathology througho...