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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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"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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"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
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"name": "Y a-t-il des signes cliniques spécifiques à surveiller ?",
"position": 10,
"acceptedAnswer": {
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"position": 11,
"acceptedAnswer": {
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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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"position": 14,
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"@type": "Question",
"name": "Les vaccinations ont-elles un rôle dans la prévention ?",
"position": 15,
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{
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"name": "Quels traitements sont disponibles pour les troubles liés aux phosphomutases ?",
"position": 16,
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{
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"position": 17,
"acceptedAnswer": {
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"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 18,
"acceptedAnswer": {
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"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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"@type": "Question",
"name": "Quelles complications peuvent survenir avec une déficience en phosphomutases ?",
"position": 21,
"acceptedAnswer": {
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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": {
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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": {
"@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" :
This study was designed to estimate the burden of blindness and vision impairment in school children, and to determine the proportion of students meeting the visual acuity (VA) demand for their classr...
Dynamic visual acuity (DVA) is crucial for the perception of moving objects. While traditional DVA assessment tools predominantly focus on horizontal movements, the evaluation of vertical DVA remains ...
To investigate the early visual acuity (VA) changes that occur after trabeculectomy and their reversal with recovery....
Two hundred ninety-two eyes of 292 patients after initial trabeculectomy as a standalone procedure fulfilling the following conditions were included: 1) patients with a postoperative follow-up of at l...
The mean IOPs (mmHg) after trabeculectomy were significantly lower than preoperatively during the entire period (P < 0.0001). The mean corrected VA for all patients was 0.06 ± 0.17, 0.24 ± 0.38, 0.19 ...
The frequency of serious vision loss was 4.45% for two or more levels of vision loss, and early postoperative VA changes after trabeculectomy may not be reversed even 3 months later. VA loss is influe...
Visual perception is limited by spatial resolution, the ability to discriminate fine details. Spatial resolution not only declines with eccentricity but also differs for polar angle locations around t...
Standard-of-care assessment for children with amblyopia includes measuring amblyopic eye best-corrected visual acuity (AE BCVA) with the fellow eye occluded. By definition, this abolishes the interocu...
Cross-sectional study....
Dichoptic and monocular AE BCVA of children aged 6-12 years (42 with amblyopia, 24 with recovered normal AE BCVA, 30 control) were measured. Stereoacuity, suppression, eye-hand coordination, and readi...
Overall, 81% of amblyopic children had worse dichoptic than monocular AE BCVA (mean difference=0.15±0.11 logMAR; P < .0001), and 71% of children with recovered normal AE BCVA had worse dichoptic than ...
Dichoptic AE BCVA deficits were worse than monocular AE BCVA deficits and were associated with reduced stereoacuity and suppression, consistent with the hypothesis that binocular dysfunction plays a r...
Evaluate the differences between clinical visual acuity (VA) as recorded in medical records and electronic Early Treatment Diabetic Retinopathy Study (eETDRS) protocol VA measurements and factors affe...
Retrospective chart review....
Study and fellow eyes of participants enrolled in DRCR Retina Network Protocols AC and AE (diabetic macular edema), and W (nonproliferative diabetic retinopathy) with clinical VA recorded within 3 mon...
Differences and their association with patient and ocular factors were evaluated using linear mixed models with random effects for correlations within sites and participants....
Difference between VA letter scores measured by eETDRS during a study visit versus measured by Snellen during a regular clinical visit (Snellen fraction converted to eETDRS)....
Data from 1016 eyes (511 participants) across 74 sites were analyzed. The mean VA measurements were 68.6 letters (Snellen equivalent 20/50) at the clinical visit and 76.3 letters (Snellen equivalent 2...
On average, clinical Snellen VA is 1 to 2 lines worse than eETDRS protocol refraction and VA testing, which may partly explain why clinical practice does not always replicate clinical trial results. E...
Proprietary or commercial disclosure may be found after the references....
Visual acuity declines with age, and disease-related visual acuity changes vary. We evaluated factors affecting visual acuity and age-related visual acuity in diseases associated with reduced visual a...
Lighting conditions significantly influence visual acuity (VA), visual function, and quality of life. Previous research highlighted a correlation between luminance and VA but left a gap in understandi...
This study aimed to investigate the influence of both central and surrounding luminance on VA through distance VA measurements....
A dual-component lighting system was utilized, comprising a self-illuminated ETDRS chart and a skyLED system for consistent surrounding illumination. Two experimental setups were conducted: the first ...
Sixty-six participants with refractive errors between 0.0 D and -2.75 D were tested under various lighting conditions. Both uncorrected refractive error (URE) and corrected refractive error (CRE) eyes...
Paired t-tests were used to evaluate the statistical significance of differences in VA scores....
Experiment 1 demonstrated a significant increase in VA scores, with mean improvements of -0.120 LogMAR for URE eyes and -0.073 LogMAR for CRE eyes as chart luminance increased from 26 cd/m² to 153 cd/...
This study emphasizes the significant impact of both central and peripheral luminance on VA. The introduction of the skyLED lighting system underlines the importance of optimal lighting for visual per...
Silicone oil is an established intraocular surgical aid, which enables the treatment of the most complex starting situations but no other alternative has been found; however, the available data indica...
Human sensitivity to visual input often scales with the magnitude of evoked responses in the brain. Here, we demonstrate an exception. We record electroencephalography (EEG) while people attempt to re...