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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 ?",
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"name": "Comment les symptômes varient-ils selon le type d'enzyme ?",
"position": 8,
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"text": "Les symptômes dépendent de l'enzyme spécifique affectée et de son rôle métabolique."
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"name": "Les symptômes apparaissent-ils à la naissance ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent apparaître à la naissance, tandis que d'autres se développent plus tard."
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"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques aux enfants ?",
"position": 10,
"acceptedAnswer": {
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en phosphotransférases ?",
"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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"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,
"acceptedAnswer": {
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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": "Quels traitements sont disponibles pour les déficiences en phosphotransférases ?",
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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,
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"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques pour ces conditions."
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"@type": "Question",
"name": "Comment la gestion diététique aide-t-elle ?",
"position": 20,
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
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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,
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"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque connus."
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"@type": "Question",
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"position": 27,
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"text": "Oui, certains facteurs environnementaux peuvent influencer l'expression des déficiences enzymatiques."
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{
"@type": "Question",
"name": "Les infections peuvent-elles aggraver la condition ?",
"position": 30,
"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)" :
Virtual reality field testing may provide an alternative to standard automated perimetry. This study evaluates a virtual reality game-based automated perimetry in a healthy pediatric population....
A prospective series of pediatric patients at one institution who performed VisuALL perimetry (Olleyes Inc, Summit, NJ) using a game-based algorithm. Participants were examined by an experienced pedia...
A total of 191 eyes of 97 patients (54% female) were included, with a mean age of 11.9 ± 3.1 years. The average MD was -1.82 ± 3.5 dB, with a mean foveal sensitivity of 32.0 ± 4.7 dB. Fifty-nine eyes ...
VisuALL virtual reality field testing was well tolerated in this pediatric study cohort. Older age and shorter test duration were associated with better performance on field testing....
To compare visual field test results of Glaufield Lite AP901 CTS 133 (Appasamy Associates, Mannadipet Commune, Thirubhuvanai, Puducherry, India, hereafter Glaufield Lite) with Humphrey Field Analyser ...
A pilot study at a tertiary eye centre involving 23 normal and 24 glaucoma patients who underwent two consecutive visual field tests on (i) HFA 24-2 SITA Fast and (ii) Glaufield Lite Quick Central pro...
The mean testing time on HFA was significantly shorter than Glaufield Lite (normals: HFA: 2.75 ± 0.49 min, Glaufield Lite: 6.85 ± 0.86 min, p < 0.001; glaucoma patients: HFA: 3.45 ± 1.08 min, Glaufiel...
Both perimetric techniques showed reliable test results though test duration was longer with Glaufield Lite perimetry. The MD showed poor agreement, likely due to different scales and principles used ...
To investigate the influence of peripapillary retinoschisis (PRS) on visual field (VF) test results in patients with primary open angle glaucoma (POAG)....
Thirty eyes of 30 patients with POAG who had PRS at least once were included. All eyes were followed-up for a minimum 5 years at 4-6-month intervals. The occurrence of PRS was determined by circumpapi...
Global MD (p=0.345) and regional VF deviations (p=0.255) did not differ significantly between immediately after and just prior to PRS formation. Global MD (p=0.846) and regional VF deviations (p=0.758...
PRS has no short-term effect on the VF sensitivity. Therefore, VF test can still be useful for evaluating glaucomatous damage even in the presence of PRS compared with OCT....
Despite, the potential clinical utility of 60-4 visual fields, they are not frequently used in clinical practice partly, due to the purported impact of facial contour on field defects. The purpose of ...
Subjects with no ocular pathology were included. Participants were subject to optical coherence tomography, 60-4 Swedish interactive thresholding algorithm visual field tests and photography. The pred...
30 healthy were enrolled. Three-dimensional facial reconstruction using a convolution neural network (CNN) was able to predict facial contour-dependent 60-4 visual field defects in 30 subjects without...
This pilot study reports the development of a CNN-enhanced platform capable of predicting 60-4 visual field defects in healthy controls based on facial contour. Further study with this platform may en...
Visual field (VF) test is one of the most vital tests in the diagnosis of glaucoma and to monitor the disease worsening. In the past couple of decades, the standard automated perimetry (SAP) test take...
To compare clinical visual field outputs in glaucoma and healthy patients returned by the Humphrey Field Analyzer (HFA) and virtual reality (Virtual Field, VF) perimetry....
One eye of 54 glaucoma patients and 41 healthy subjects was prospectively tested (three times each in random order) using the HFA and VF perimeters (24-2 test grids). We extracted and compared global ...
The VF test was shorter (by 76 s) and had lower fixation losses (by 0.08) and false-positive rate (by 0.01) compared to the HFA (all p < 0.0001). Intraclass correlations were 0.86, 0.82 and 0.47 for M...
Virtual Field returns global results that are correlated with the HFA, but pointwise sensitivities were more variable. Differences in test-retest variability and defect detection by its current normat...
We evaluated 16,351 visual field (VF) tests from Ocular Hypertension Treatment Study (OHTS) database and showed that more frequent testing resulted in a shorter time to detect glaucoma progression, wi...
To investigate the effect of different testing intervals on time to detect visual field progression in eyes with ocular hypertension....
A total of 16,351 reliable 30-2 VF tests from 1575 eyes of the OHTS-1 observation arm with a mean (95% CI) follow-up of 4.8 (4.7-4.8) years were analyzed. Computer simulations (n = 10,000 eyes) based ...
At 80% power, based on the progression of -0.42 dB/year, the best trade-off to detect significant rates of VF change to clinically meaningful perimetric loss in high, medium, and low-risk patients was...
Given the importance of not missing the conversion to glaucoma, the frequency of testing used in OHTS (6 mo) was optimal for the detection of progression in high-risk patients. Low-risk patients could...
This study of inter-test comparability of a novel visual field application installed on an augmented-reality portable headset and Humphrey field analyzer Swedish interactive thresholding algorithm (SI...
To determine the correlation between visual field testing with novel software on a wearable headset versus standard automated perimetry....
Patients with and without visual field defects attributable to glaucoma had visual field testing in one eye of each patient with 2 methods: re:Imagine Strategy (Heru, Inc.) and the Humphrey field anal...
Measurements from 89 eyes of 89 patients (18 normal and 71 glaucomas) were compared with both instruments. Linear regression analysis demonstrated an excellent Pearson correlation coefficient of r = 0...
The Heru visual field test correlated well with SITA Standard in a population of normal eyes and eyes with glaucoma....
The aim of the study is to analyze visual fields defects (VFDs) in epidemic retinitis (ER)....
Patients with ER and Humphrey's visual field (HFA) 30-2 performed after resolution were studied. VFD severity grading was performed. Patients treated with oral doxycycline (Group-A) versus doxycycline...
Thirty-five eyes of 25 patients were studied. Nasal, inferior, temporal and central VFD were seen in 19 (54.2%), 13 (37.1%), 7 (20%) and 6 (17.1%) eyes, respectively. Grade 0, 1, 2 and 3 VFDs were see...
ER can cause VFD persisting long after resolution. Treatment with oral doxycycline without steroids was non-inferior to combined treatment with respect to VFD....
To compare the ability of imo binocular random single-eye test (BRSET) to detect visual field (VF) defects due to chiasmal and postchiasmal lesions (C/PCLs) with a Humphrey Field Analyzer (HFA) monocu...
Prospective multicenter study METHODS: This study enrolled 40 patients with C/PCLs and measured their VFs using both imo BRSET and HFA monocular test. The VFs were classified into three groups using t...
The VFs of 34 patients were analyzed and classified. There were 13 patients in the bitemporal, 6 in the homonymous, and 15 in the others group. BRSET showed a significantly shorter test duration than ...
BRSET detected VF defects due to C/PCLs as accurately as the HFA monocular test with a shorter test duration....