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Enzymes et coenzymes
Enzymes
Transferases
Phosphotransferases
Phosphotransferases (Phosphate Group Acceptor)
Phosphotransferases (Phosphate Group Acceptor) : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Déficience enzymatique
Phosphotransférases
Tests de laboratoire
Phosphotransférases
Symptômes métaboliques
Phosphotransférases
Tests génétiques
Phosphotransférases
Imagerie médicale
Phosphotransférases
Symptômes
5
Fatigue
Phosphotransférases
Troubles neurologiques
Phosphotransférases
Enzymes
Phosphotransférases
Symptômes néonatals
Phosphotransférases
Retard de développement
Phosphotransférases
Prévention
5
Prévention
Phosphotransférases
Dépistage néonatal
Phosphotransférases
Recommandations diététiques
Phosphotransférases
Conseils génétiques
Phosphotransférases
Vaccination
Phosphotransférases
Traitements
5
Traitement nutritionnel
Phosphotransférases
Thérapie génique
Phosphotransférases
Médicaments
Phosphotransférases
Essais cliniques
Phosphotransférases
Gestion diététique
Phosphotransférases
Complications
5
Complications métaboliques
Phosphotransférases
Troubles cardiaques
Phosphotransférases
Qualité de vie
Phosphotransférases
Complications
Phosphotransférases
Maladies métaboliques
Phosphotransférases
Facteurs de risque
5
Facteurs de risque
Phosphotransférases
Facteurs environnementaux
Phosphotransférases
Maladies auto-immunes
Phosphotransférases
Alimentation
Phosphotransférases
Infections
Phosphotransférases
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"name": "Comment diagnostiquer une déficience en phosphotransférases ?",
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"text": "Des tests enzymatiques et des analyses biochimiques sont utilisés pour évaluer l'activité des phosphotransférases."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des phosphotransférases ?",
"position": 2,
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"position": 7,
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"position": 8,
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"name": "Les symptômes apparaissent-ils à la naissance ?",
"position": 9,
"acceptedAnswer": {
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"name": "Y a-t-il des symptômes spécifiques aux enfants ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en phosphotransférases ?",
"position": 11,
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"name": "Les tests de dépistage néonatal sont-ils utiles ?",
"position": 12,
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"name": "Y a-t-il des recommandations diététiques préventives ?",
"position": 13,
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"name": "Les conseils génétiques sont-ils importants ?",
"position": 14,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les vaccinations peuvent-elles aider à prévenir des complications ?",
"position": 15,
"acceptedAnswer": {
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"name": "La thérapie génique est-elle une option ?",
"position": 17,
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"@type": "Question",
"name": "Les médicaments peuvent-ils aider à traiter ces déficiences ?",
"position": 18,
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"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 19,
"acceptedAnswer": {
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"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques pour ces conditions."
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"name": "Comment la gestion diététique aide-t-elle ?",
"position": 20,
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"text": "Une gestion diététique peut aider à compenser les déficiences métaboliques et à améliorer la santé."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
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"text": "Des complications métaboliques, neurologiques et de croissance peuvent se développer."
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"@type": "Question",
"name": "Les troubles cardiaques sont-ils une complication possible ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cardiaques peuvent survenir en raison d'un métabolisme énergétique altéré."
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"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent réduire la qualité de vie en limitant les activités quotidiennes."
}
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{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies métaboliques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes avec des déficiences en phosphotransférases peuvent avoir un risque accru de maladies métaboliques."
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"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque connus."
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"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains facteurs environnementaux peuvent influencer l'expression des déficiences enzymatiques."
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"@type": "Question",
"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
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"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections peuvent déclencher ou aggraver les symptômes liés aux déficiences enzymatiques."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 27/04/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Institute of Biochemistry and Molecular Medicine, University of Bern, Bühlstrasse 28, 3012, Bern, Switzerland. jean-marc.jeckelmann@ibmm.unibe.ch.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
3 publications dans cette catégorie
Affiliations :
Institute of Polymer Optoelectronic Materials and Devices, South China University of Technology, Guangzhou 510640, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Institute of Biochemistry and Molecular Medicine, University of Bern, Bühlstrasse 28, 3012, Bern, Switzerland.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Shenzhen Grubbs Institute and Department of Chemistry, Southern University of Science and Technology, Shenzhen 518055, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Shenzhen Grubbs Institute and Department of Chemistry, Southern University of Science and Technology, Shenzhen 518055, China.
Guangdong Provincial Key Laboratory of Catalysis, Southern University of Science and Technology, Shenzhen 518055, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Hoffmann Institute of Advanced Materials, Shenzhen Polytechnic University, 7098 Liuxian Blvd, District Nanshan, Shenzhen, 518055, P. R. China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Ningbo Institute of Materials Technology and Engineering, Chinese Academy of Sciences, Ningbo 315201, China.
Center of Materials Science and Optoelectronics Engineer, University of Chinese Academy of Sciences, Beijing 100049, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Ningbo Institute of Materials Technology and Engineering, Chinese Academy of Sciences, Ningbo 315201, China.
Center of Materials Science and Optoelectronics Engineer, University of Chinese Academy of Sciences, Beijing 100049, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Institute of Polymer Optoelectronic Materials and Devices, South China University of Technology, Guangzhou 510640, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Center for Advanced Low-Dimension Materials, State Key Laboratory for Modification of Chemical Fibers and Polymer Materials, College of Materials Science and Engineering, Donghua University, Shanghai 201620, P. R. China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Institute of Polymer Optoelectronic Materials and Devices and State Key Laboratory of Luminescent Materials and Devices, South China University of Technology, Guangzhou 510640, P. R. China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321-0293, Japan.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321-0293, Japan h-sugi@dokkyomed.ac.jp.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
2 publications dans cette catégorie
Affiliations :
Department of Microbiology, Assam University, Silchar, Assam, India.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
Department of Biochemistry, McGill University, Montreal, QC H3G 0B1, Canada.
Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
Department of Biochemistry, McGill University, Montreal, QC H3G 0B1, Canada.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
Department of Biochemistry, McGill University, Montreal, QC H3G 0B1, Canada.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Key Laboratory of Industrial Biotechnology, School of Life Sciences, Hubei University, Wuhan 430062, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
1 publication dans cette catégorie
Affiliations :
State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Key Laboratory of Industrial Biotechnology, School of Life Sciences, Hubei University, Wuhan 430062, China.
Publications dans "Phosphotransferases (Phosphate Group Acceptor)" :
The goal of the current study was to investigate the opinions of adult patients with epilepsy (PWE) with regard to the application of epilepsy surgery for their condition....
We surveyed all the consecutive adult PWE with at least one year history of epilepsy who were referred to our neurology clinics (Shiraz University of Medical Sciences) from September 2022 until Januar...
In total, 393 adult PWE participated in the study; 180 patients (45.8%) expressed that they would be willing to have surgery if their epilepsy doctor told them that brain surgery was guaranteed to sto...
Many patients with epilepsy are willing to have epilepsy surgery if their physician presented epilepsy surgery to them as an established safe and effective treatment option. The important values and p...
Many studies focus on knowledge and attitudes of unaffected people towards epilepsy and people with epilepsy (PWE). The perspective of PWE themselves is much less explored....
We invited PWE in Germany to answer a questionnaire on their knowledge and attitudes towards epilepsy and PWE....
The questionnaire was completed by 230 PWE (median age: 40 years; min./max.: 19/83; 66 % female). Of PWE, 22 % thought that PWE are more helpful, and 10 % thought that PWE are friendlier than other pe...
Although positive attitudes of PWE towards other PWE exist, we also found some reservations calling for psychosocial support. Most PWE had sufficient knowledge about risks of certain activities and ab...
This survey aimed to investigate the opinions of the parents of children with epilepsy with regard to the application of epilepsy surgery for their children....
We surveyed all the parents of children with epilepsy referred to our neurology clinic (Shiraz University of Medical Sciences) in April-July 2022. We collected their opinions about epilepsy surgery ba...
In total, 472 people participated in the study; 277 participants (58.7%) were willing to have epilepsy surgery for their child; the most common reason was to be able to discontinue the drugs. Sex (mal...
Most parents of children with epilepsy are willing to have epilepsy surgery for their children if their physician presents epilepsy surgery to them as an established, safe, and effective treatment opt...
Next generation sequencing (NGS) has greatly expanded our understanding of genetic contributors in multiple epilepsy syndromes, including focal epilepsy. Describing the genetic architecture of common ...
Targeted panel sequencing was performed on 96 patients with a strong clinical suspicion of genetic focal epilepsy. Patients had previously gone through a comprehensive diagnostic epilepsy evaluation i...
Six VOI in eight (8/96, 8.3%) patients were found in our cohort. Four likely pathogenic VOI were determined in six (6/96, 6.2%) patients, two DEPDC5 variants in two patients, one SCN1A variant in two ...
Sequencing of only five known epilepsy genes yielded a diagnostic result in 6.2% of our cohort and revealed multiple novel variants. Further research is necessary for a better understanding of the gen...
Anhedonia, the impaired ability to experience pleasure, is a core feature of major depressive disorder, one of the most common comorbidities in epilepsy. It is also reported as a clinical feature inde...
A consecutive sample of 211 people (118 female, 93 male, mean age 38.09 years) completed the Snaith-Hamilton Pleasure Scale (SHAPS) to determine the presence of anhedonia and the Hospital Anxiety and ...
Over one in three of the sample (35%) reported significant anhedonia on the SHAPS. While these patients were more likely to have a diagnosis of depression (p < 0.01), 30% of people without a diagnosis...
While anhedonia is well recognized as a feature of depression, our data suggests that it can be present in up to a third of people with epilepsy who do not have a diagnosis of depression. Cognitive di...
Epilepsy affects over 50 million individuals globally, making it the most prevalent chronic and serious neurological condition. A precise therapeutic strategy is complicated by poor understanding of t...
The incidence rate of epilepsy has importantly increased during the last decades due to the rising expectation of life. Special clinical aspects have to be considered for the correct diagnosis and dif...
Neuropsychological evaluation is an essential component of clinical care for people with epilepsy and also has a specialized role in predicting cognitive outcome after epilepsy surgery. Neuropsycholog...
Family burden (FB) in pediatric patients with drug-resistant epilepsy (DRE) is significantly higher than that in children with non-DRE. Epilepsy surgery is an established approach to treat DRE, and th...
We retrospectively analyzed data of families and pediatric patients with focal structural DRE treated with epilepsy surgery at our epilepsy center from April 2018 to November 2021. We examined the rel...
The study cohort included 31 children with DRE at a mean age of 9 years at surgery (range = 0-16) and a mean epilepsy duration of 3 years (range = 0-14). Cognitive impairment correlated with FB in chi...
In children with DRE, epilepsy surgery reduces FB. Given the considerable impact of families on the development and wellbeing of their children, the impact of epilepsy surgery should be communicated t...
Epilepsy is one of most common chronic neurological disorders, and the antiseizure medications developed by targeting neurocentric mechanisms have not effectively reduced the proportion of patients wi...