questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Isomerases
Intramolecular transferases
Phosphotransferases phosphomutases
Phosphotransferases phosphomutases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Comparative Genomic Hybridization
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
Douleurs musculaires
Troubles métaboliques
Phosphotransférases
Anomalies métaboliques
Glucides
Lipides
Âge
Développement
Symptômes
Hypoglycémie
Troubles neurologiques
Signes cliniques
Prévention
5
Prévention
Diagnostic précoce
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 sont les symptômes d'une déficience en phosphomutases ?",
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"name": "Peut-on observer des anomalies métaboliques ?",
"position": 8,
"acceptedAnswer": {
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"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,
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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,
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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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"name": "Quels traitements sont disponibles pour les troubles liés aux phosphomutases ?",
"position": 16,
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"position": 17,
"acceptedAnswer": {
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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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"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 20,
"acceptedAnswer": {
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"text": "Une nutrition adéquate peut améliorer la gestion des symptômes et le métabolisme."
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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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"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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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": {
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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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"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" :
The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical findings, analyze the prevalence of VUS, rep...
We retrospectively analyzed a cohort of 772 fetuses with indication for genetic study in two tertiary hospitals, in a 9-years-period, using aCGH....
Our results demonstrated 8.3 % (6.4-10.5 %, 95 % CI) detection rate of pathogenic CNVs. Within this group, the main indication was structural malformations (57 %) mainly involving central nervous syst...
Our findings demonstrate 4.9 % (4.2-5.6 %, 95 % CI) increased in the diagnostic yield using aCGH compared to the use of conventional karyotype alone, confirming that the aCGH can improve the accuracy ...
Comparative genomics is the comparison of genetic information within and across organisms to understand the evolution, structure, and function of genes, proteins, and non-coding regions (Sivashankari ...
Oral squamous cell carcinoma (OSCC) is a severe form of cancer affecting different anatomic sites of the oral cavity. OSCC ranks as the sixth most common cancer type with an increasing prevalence glob...
The Illumina CytoSNP-12 Array was used to determine copy number variations in OSCC cancer genome. Hybridization procedures were performed according to the manufacturer procedures (Illumina). Arrays we...
We reported that gains in 8q21.11-ter, 9p21.3, 13q14.11-ter, 13q13.3-ter and losses in 5q14.3-ter, 5q35 and 17p13.3-12 were associated with the development of OSCC. In addition, we also detected that ...
Our results were also showed that gains in 11q13.3-q13.4 and 2q13.2 chromosomal regions could promote the metastatic OSCC process. We believe that results of the study will help to find new biomarkers...
Teratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of teratomas may provide a better understanding of their stepwi...
In the present study, we analyzed the copy number aberrations of nine ovarian mature cystic teratomas using array comparative genomic hybridization in an attempt to reveal their genomic aberrations....
The many chromosomal aberrations observed on array comparative genomic hybridization analysis reveal the complex genetics of this tumor. Amplifications and deletions of large DNA fragments were observ...
Our results indicated that amplifications of these genes may play an important etiological role in teratoma formation. Moreover, amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1, found on array compa...
Balamuthia mandrillaris is a pathogenic protozoan that causes a rare but almost always fatal infection of the central nervous system and, in some cases, cutaneous lesions. Currently, the genomic data ...
Biological denitrification has been commonly adopted for the removal of nitrogen from sewage effluents. However, due to the low temperature during winter, microorganisms in the wastewater biological t...
Here, the basic characteristics and genetic diversity of strains PMCC200344 and PMCC200367 were described, together with the complete genomes and comparative genomic results. The genome of Pseudomonas...
These analytical results provide insights into the genomic basis of microbial denitrification in cold environments, indicating the potential of Arctic Pseudomonas strains in nitrogen removal from sewa...
Huangjiu is a popular Chinese traditional alcoholic beverage, while its brewing processes have rarely been explored. We herein report the first gapless, near-finished genome assembly of the industrial...
Human pluripotent stem cells (hPSCs) have generated unprecedented interest in the scientific community, given their potential applications in regenerative medicine, disease modeling, toxicology and dr...
The immense progress in molecular biology observed in the last decades has led to a fundamental change in our understanding of the etiology of human diseases. Whole genome analyses, both DNA sequencin...
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was ...