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Enzymes et coenzymes
Enzymes
Isomerases
Intramolecular transferases
Phosphotransferases phosphomutases
Phosphotransferases phosphomutases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Déficience enzymatique
Phosphotransférases
Tests biochimiques
Tests enzymatiques
Phosphotransférases
Activité enzymatique
Troubles métaboliques
Fatigue
Symptômes
Tests génétiques
Mutations
Phosphotransférases
Imagerie par résonance magnétique
Phosphotransférases
Diagnostic
Symptômes
5
Déficience enzymatique
Fatigue
Symptômes
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Troubles métaboliques
Phosphotransférases
Anomalies métaboliques
Glucides
Lipides
Âge
Développement
Symptômes
Hypoglycémie
Troubles neurologiques
Signes cliniques
Prévention
5
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Phosphotransférases
Conseils diététiques
Alimentation équilibrée
Nutriments
Tests de dépistage
Familles à risque
Prévention
Suivi médical
Prévention
Symptômes
Vaccinations
Prévention
Santé générale
Traitements
5
Traitement
Suppléments enzymatiques
Diète
Thérapie génique
Déficience enzymatique
Recherche
Médicaments
Gestion des symptômes
Phosphotransférases
Traitements expérimentaux
Études cliniques
Phosphotransférases
Nutrition
Gestion des symptômes
Métabolisme
Complications
5
Complications
Troubles métaboliques
Problèmes neurologiques
Complications
Gestion
Réversibilité
Qualité de vie
Complications
Activités quotidiennes
Risques
Complications à long terme
Suivi médical
Prévention
Traitement précoce
Suivi régulier
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Mutations génétiques
Environnement
Expression des gènes
Phosphotransférases
Habitudes alimentaires
Risque
Complications
Groupes à risque
Antécédents familiaux
Troubles métaboliques
Stress
Risque
Métabolisme
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"name": "Comment diagnostiquer une déficience en phosphomutases ?",
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"text": "Des tests enzymatiques et des analyses biochimiques sont utilisés pour diagnostiquer."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des phosphomutases ?",
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"acceptedAnswer": {
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"name": "Quels symptômes peuvent indiquer un problème avec les phosphomutases ?",
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"name": "Les tests génétiques sont-ils utiles pour le diagnostic ?",
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"name": "Quels sont les symptômes d'une déficience en phosphomutases ?",
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"position": 9,
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"name": "Y a-t-il des signes cliniques spécifiques à surveiller ?",
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"acceptedAnswer": {
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"position": 11,
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"name": "Y a-t-il des conseils diététiques pour prévenir les symptômes ?",
"position": 12,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée et riche en nutriments peut aider à prévenir certains symptômes."
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"@type": "Question",
"name": "Les tests de dépistage sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
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"@type": "Question",
"name": "Comment le suivi médical aide-t-il à la prévention ?",
"position": 14,
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"@type": "Question",
"name": "Les vaccinations ont-elles un rôle dans la prévention ?",
"position": 15,
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"name": "Quels traitements sont disponibles pour les troubles liés aux phosphomutases ?",
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"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
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"text": "La thérapie génique est en recherche pour traiter certaines déficiences enzymatiques."
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"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 18,
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"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, plusieurs études cliniques explorent de nouveaux traitements pour ces troubles."
}
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{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 20,
"acceptedAnswer": {
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"name": "Quelles complications peuvent survenir avec une déficience en phosphomutases ?",
"position": 21,
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"name": "Les complications sont-elles réversibles ?",
"position": 22,
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"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
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"text": "Les complications peuvent réduire la qualité de vie en limitant les activités quotidiennes."
}
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
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}
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"@type": "Question",
"name": "Les complications peuvent-elles être prévenues ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un traitement précoce et un suivi régulier."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles des phosphomutases ?",
"position": 26,
"acceptedAnswer": {
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"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle dans ces troubles ?",
"position": 27,
"acceptedAnswer": {
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}
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"@type": "Question",
"name": "Les habitudes alimentaires influencent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Une mauvaise alimentation peut exacerber les symptômes et augmenter le risque de complications."
}
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{
"@type": "Question",
"name": "Y a-t-il des groupes à risque spécifique ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes avec des antécédents familiaux de troubles métaboliques sont à risque accru."
}
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{
"@type": "Question",
"name": "Le stress peut-il affecter le risque de troubles ?",
"position": 30,
"acceptedAnswer": {
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"text": "Oui, le stress peut aggraver les symptômes et influencer le métabolisme."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 05/03/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA shumans@mskcc.org.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Institute of Biochemistry and Molecular Medicine, Medical Faculty, University of Bern, Bern, Switzerland.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: skornfel@wustl.edu.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Department of Biophysics and Chemical Biology, Seoul National University, Seoul, South Korea.
School of Biological Sciences and Institute of Microbiology, Seoul National University, Seoul, South Korea.
Publications dans "Phosphotransferases phosphomutases" :
3 publications dans cette catégorie
Affiliations :
Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321-0293, Japan.
Publications dans "Phosphotransferases phosphomutases" :
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 phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Department of Microbiology, Assam University, Silchar, Assam, India.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Bern, Bern, Switzerland. Electronic address: bernhard.erni@dcb.unibe.ch.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Medical Molecular Biology Laboratory, School of Medicine, Jinhua Polytechnic, Jinhua, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
2 publications dans cette catégorie
Affiliations :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Medical Molecular Biology Laboratory, School of Medicine, Jinhua Polytechnic, Jinhua, China.
Publications dans "Phosphotransferases phosphomutases" :
The recent advent of genetic genealogy has brought about a renewed interest in genome-scale forensic analyses, of which kinship estimation is a critical component. Most genomic kinship estimators cons...
Previous functional magnetic resonance imaging (fMRI) studies reported inconsistent results for comparison in brain activation between migraine patients and healthy controls (HC). Thus, activation lik...
Studies published before October 2022 were searched in the following databases (PubMed, Web of Science and Google Scholar)....
Migraine without aura (MWoA) patients showed reduced amplitude of low-frequency fluctuations (ALFF) in right lingual gyrus, the left posterior cingulate and the right precuneus (PCUN), compared to HC....
ALE analysis identified consistent functional changes in widespread regions, especially in cingulate gyrus, basal ganglia region and frontal cortex in migraine. These regions involve in pain processin...
The mean residual life (MRL) function is one of the basic parameters of interest in survival analysis. In this paper, we develop three procedures based on modified versions of empirical likelihood (EL...
In practice, a disease process might involve three ordinal diagnostic stages: the normal healthy stage, the early stage of the disease, and the stage of full development of the disease. Early detectio...
Prior research has shown that acupuncture, a traditional Chinese medical therapy, may have a certain therapeutic effect in patients with mild cognitive impairment (MCI). Furthermore, some studies have...
We searched PubMed, EMBASE, Cochrane Library, SinoMed, CNKI and other databases in Chinese and English to identify neuroimaging studies of acupuncture interventions in MCI patients. After two stages o...
The changes in functional activation of 95 different areas in 8 trials, including 212 MCI patients, were analysed. The three most commonly used traditional acupuncture point locations in acupuncture i...
Acupuncture intervention for MCI appears to change the plasticity of brain function and improve the cognitive function of patients. Due to the small number and low quality of the included studies, the...
PROSPERO reference CRD42022301056 (http://www.crd.york.ac.uk/PROSPERO)....
Phylogenetics has a crucial role in genomic epidemiology. Enabled by unparalleled volumes of genome sequence data generated to study and help contain the COVID-19 pandemic, phylogenetic analyses of SA...
The default mode network (DMN) is thought to be involved in the pathophysiology of bipolar depression (BD). However, the findings of prior studies on DMN alterations in BD are inconsistent. Thus, this...
We systematically searched PubMed, Ovid, and Web of Science for functional neuroimaging studies on regional homogeneity, amplitude of low frequency fluctuations (ALFF), and functional connectivity of ...
A total of 43 original research studies were included in the meta-analysis. BD patients showed specific changes in the DMN including decreased ALFF/fractional ALFF in the left cingulate gyrus (CG) and...
Conclusions are limited by the small number of studies, additional meta-analyses are needed to obtain more data in BD subgroup....
This meta-analysis supports specific changes in DMN activity and FC in BD patients, which may be powerful biomarkers for the diagnosis of BD. The CG and PCUN were the most affected regions and are thu...
The ROC curve and its associated summary statistic, the AUC, are used to identify informative diagnostic biomarkers under the assumption that risk of disease is a monotone function of the biomarker. W...
Among many efforts to facilitate timely access to safe and effective medicines to children, increased attention has been given to...
We suggest a novel method for detecting mortality deceleration by adding a penalty to the log-likelihood function in a gamma-Gompertz setting. This is an alternative to traditional likelihood inferenc...