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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 ?",
"position": 1,
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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 ?",
"position": 2,
"acceptedAnswer": {
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"@type": "Question",
"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": "Quelle imagerie peut aider à diagnostiquer des troubles liés aux phosphomutases ?",
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en phosphomutases ?",
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"name": "Les douleurs musculaires sont-elles liées aux phosphomutases ?",
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"name": "Peut-on observer des anomalies métaboliques ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dans le métabolisme des glucides et des lipides peuvent être présentes."
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"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, les symptômes peuvent se manifester différemment selon l'âge et le développement."
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{
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"name": "Y a-t-il des signes cliniques spécifiques à surveiller ?",
"position": 10,
"acceptedAnswer": {
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"text": "Des signes comme l'hypoglycémie et des troubles neurologiques peuvent être observés."
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"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux phosphomutases ?",
"position": 11,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques pour prévenir les symptômes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"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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"text": "Des tests de dépistage peuvent être recommandés pour les familles à risque."
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},
{
"@type": "Question",
"name": "Comment le suivi médical aide-t-il à la prévention ?",
"position": 14,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les vaccinations ont-elles un rôle dans la prévention ?",
"position": 15,
"acceptedAnswer": {
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{
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"name": "Quels traitements sont disponibles pour les troubles liés aux phosphomutases ?",
"position": 16,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour traiter certaines déficiences enzymatiques."
}
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{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments peuvent être prescrits pour gérer les symptômes associés."
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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."
}
},
{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
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"name": "Quelles complications peuvent survenir avec une déficience en phosphomutases ?",
"position": 21,
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"text": "Des complications incluent des troubles métaboliques graves et des problèmes neurologiques."
}
},
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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}
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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": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
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"text": "Oui, des risques de complications à long terme existent, nécessitant un suivi médical."
}
},
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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": {
"@type": "Answer",
"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": {
"@type": "Answer",
"text": "Oui, des facteurs environnementaux peuvent influencer l'expression des gènes liés aux phosphomutases."
}
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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."
}
},
{
"@type": "Question",
"name": "Le stress peut-il affecter le risque de troubles ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"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" :
To evaluate the predictive validity and cut-off point of heart rate and blood pressure on heart rate variability (HRV) changes in children with and without obesity....
This study included 125 children, of whom 41 were normal weight and 84 were obese. Anthropometry, blood pressure, heart rate, and HRV were measured using an electronic scale and stadiometer, a sphygmo...
Heart rate proved to be a good predictor for changes in the square root of the mean of the square of the differences between consecutive NN intervals (RMSSD) parameter in students of both sexes for th...
The predictive validity of heart rate was shown to be at a good level, with high sensitivity and acceptable specificity for the cut-off points according to the different analyses stratified by gender ...
Photoplethysmography (PPG) is a low-cost and easy-to-implement method to measure vital signs, including heart rate (HR) and pulse rate variability (PRV) which widely used as a substitute of heart rate...
We evaluate the accuracy of PPG signals-collected by the Samsung Gear Sport smartwatch in free-living conditions-in terms of HR and time-domain and frequency-domain HRV parameters against a medical-gr...
We conducted 24-hours monitoring using a Samsung Gear Sport smartwatch and a Shimmer3 ECG device. The monitoring included 28 participants (14 male and 14 female), where they engaged in their daily rou...
We found a significantly high positive correlation between the smartwatch's and Shimmer ECG's HR, time-domain HRV, LF, and HF and a significant moderate positive correlation between the smartwatch's a...
The Samsung smartwatch provides acceptable HR, time-domain HRV, LF, and HF parameters during sleep time. In contrast, during the awake time, AVNN and HR show satisfactory accuracy, and the other HRV p...
Aging is associated with changes in heart rate (HR), heart rate variability (HRV), and 24-h rhythms in HR. Longevity has been linked to lower resting HR, while a higher resting HR and a decreased HRV ...
Wearable sensors are quickly making their way into psychophysiological research, as they allow collecting data outside of a laboratory and for an extended period of time. The present tutorial consider...
Resting heart rate is a determinant of cardiac output and physiological homeostasis. Although a simple, but critical, parameter, this vital sign predicts adverse outcomes, including mortality, and dev...
As a non-invasive tool for the assessment of cardiovascular autonomic function, the predictive value of heart rate variability (HRV) for sudden cardiac death (SCD) risk stratification remains unclear....
A total of 11 commonly used HRV metrics were analyzed in 192 subjects, including 88 healthy controls (low risk group), 82 hypertrophic cardiomyopathy (HCM) patients (medium risk group), and 22 SCD vic...
Most of the HRV metrics were exponentially decayed with the increase of HR, while the exponential power coefficients were significantly different among groups. The HRV...
Subjects with diverse risks of SCD had similar exponential decay relationship between HRV metrics and HR, but with different decaying rates. HRV...
Succi, PJ, Dinyer-McNeely, TK, Voskuil, CC, Abel, MG, Clasey, JL, and Bergstrom, HC. Responses to exercise at the critical heart rate vs. the power output associated with the critical heart rate. J St...
To evaluate the consistency on the target heart rate for exercise determined by simple target heart rate (sTHR) based on resting heart rate (HRrest) and heart rate at anaerobic threshold (HRAT) in car...
This is a retrospective cohort study, in which CHF patients who underwent CPET in Tongji Hospital Cardiac Rehabilitation Center Affiliated to Tongji University from March 2007 to December 2018 were en...
A total of 547 CHF patients were enrolled, including 447 males (81.7%), aged 63 (56,69) years, with BMI of 25.2 (23.5,26.4) kg/m...
The exercise target heart rate calculated by HRrest is consistent with that determined by HRAT in patients with CHF. For primary hospitals without CPET, exercise prescription equivalent to AT intensit...
To assess the reliability of nocturnal heart rate (HR) and HR variability (HRV) and to analyze the sensitivity of these markers to maximal endurance exercise....
Recreational runners recorded nocturnal HR and HRV on nights after 2 identical low-intensity training sessions (n = 15) and on nights before and after a 3000-m running test (n = 23). Average HR, the n...
All indices were similar between the nights followed by low-intensity training sessions. A very high ICC (P < .001) was observed in all analysis segments with a range of .97 to .98 for HR, .92 to .97 ...
Nocturnal HR and HRV indices are highly reliable. Demanding maximal exercise increases HR and decreases HRV most systematically in 4H and FULL segments....
The effect of resting heart rate (RHR) on the heart rate (HR) dynamics and parasympathetic modulation at rest, exercise, and recovery remain to be clarified. This study compares HR and parasympathetic...