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Enzymes et coenzymes
Enzymes
Hydrolases
Glycosidases
Hexosaminidases
beta-N-Acetylhexosaminidases
Hexosaminidase A
beta-Hexosaminidase alpha Chain
beta-Hexosaminidase alpha Chain : Questions médicales fréquentes
Diagnostic
5
Déficience enzymatique
Beta-Hexosaminidase
Tests diagnostiques
Tests génétiques
Mutation génétique
Hexosaminidase
Symptômes neurologiques
Troubles du développement
Beta-Hexosaminidase
Antécédents familiaux
Maladies lysosomales
Beta-Hexosaminidase
Dépistage néonatal
Beta-Hexosaminidase
Tests de dépistage
Symptômes
5
Symptômes neurologiques
Retard de développement
Crises
Problèmes de vision
Rétinite pigmentaire
Beta-Hexosaminidase
Anomalies cutanées
Eruptions cutanées
Beta-Hexosaminidase
Troubles cognitifs
Problèmes d'apprentissage
Beta-Hexosaminidase
Âge d'apparition
Symptômes
Beta-Hexosaminidase
Prévention
5
Prévention
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Beta-Hexosaminidase
Conseil génétique
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Beta-Hexosaminidase
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Anomalies génétiques
Beta-Hexosaminidase
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Infections
Beta-Hexosaminidase
Recommandations diététiques
Alimentation équilibrée
Beta-Hexosaminidase
Traitements
5
Traitement symptomatique
Déficience enzymatique
Beta-Hexosaminidase
Thérapie génique
Recherche
Beta-Hexosaminidase
Médicaments
Symptômes neurologiques
Beta-Hexosaminidase
Soins palliatifs
Qualité de vie
Beta-Hexosaminidase
Essais cliniques
Nouvelles thérapies
Beta-Hexosaminidase
Complications
5
Complications neurologiques
Perte de fonction motrice
Beta-Hexosaminidase
Qualité de vie
Complications
Beta-Hexosaminidase
Risques à long terme
Troubles cognitifs
Beta-Hexosaminidase
Gestion des complications
Suivi médical
Beta-Hexosaminidase
Âge
Gravité de la maladie
Beta-Hexosaminidase
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"name": "Peut-on prévenir la déficience en beta-hexosaminidase ?",
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"name": "Quel est le traitement principal pour cette déficience ?",
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"name": "Les complications varient-elles selon l'âge ?",
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 23/12/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Centers for Disease Control and Prevention, National Center for Environmental Health, Division of Laboratory Sciences, Inorganic and Radiation Analytical Toxicology Branch, 4770 Buford Hwy, MS S110-5, Atlanta, GA 30341-3717.
Publications dans "beta-Hexosaminidase alpha Chain" :
2 publications dans cette catégorie
Affiliations :
School of Psychology, University of Birmingham, UK; Centre for Human Brain Health, University of Birmingham, UK.
Publications dans "beta-Hexosaminidase alpha Chain" :
2 publications dans cette catégorie
Affiliations :
Weizmann Institute of Science, Department of Biomolecular Sciences, Rehovot, Israel.
Publications dans "beta-Hexosaminidase alpha Chain" :
2 publications dans cette catégorie
Affiliations :
Weizmann Institute of Science, Department of Biomolecular Sciences, Rehovot, Israel.
Publications dans "beta-Hexosaminidase alpha Chain" :
2 publications dans cette catégorie
Affiliations :
Weizmann Institute of Science, Department of Biomolecular Sciences, Rehovot, Israel.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Individual Entrepreneur Kursenko V.V., 423800 Naberezhnye Chelny, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
School of Veterinary Medicine and Science, University of Nottingham, Nottingham NG7 2RD, UK.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Research Centre for Medical Genetics, 115478 Moscow, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Research Centre for Medical Genetics, 115478 Moscow, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Research Centre for Medical Genetics, 115478 Moscow, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Publications dans "beta-Hexosaminidase alpha Chain" :
1 publication dans cette catégorie
Affiliations :
Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Publications dans "beta-Hexosaminidase alpha Chain" :
Engineering glycoside hydrolases is a major route to obtaining catalysts forming glycosidic bonds. Glycosynthases, thioglycoligases, and transglycosylases represent the main strategies, each having ad...
Targeted radionuclide therapy (TRT) has significantly evolved from its beginnings with iodine-131 to employing carrier molecules with beta emitting isotopes like lutetium-177. With the success of Lu-1...
Previous investigations pointed out a role for antigen stimulation in Sezary syndrome (SS). High-throughput sequencing of the T cell receptor (TR) offers several applications beyond diagnostic purpose...
We performed high-throughput RNA sequencing of the TR alpha (TRA) and beta (TRB) genes focusing on the complementarity-determining region 3 (CDR3) in 11 SS and one erythrodermic mycosis fungoides (MF)...
Highly expanded predominant TRA and TRB CDR3 were only found in SS patients (median frequency: 94.4% and 93.7%). No remarkable CDR3 expansions were observed in psoriasis patients (median frequency of ...
Besides detecting clonality, these findings shed light on the nature of SS-related antigens, pointing to RNA sequencing as a useful tool for simultaneous clonality and biological analysis in SS....
A method for the measurement of gross alpha and gross beta activities for low alpha-to-beta activity ratios is presented. Measurement of the gross alpha activity would still be important from an inter...
Recent developments in alpha and beta emitting radionuclide therapy highlight the importance of developing efficient methods for patient-specific dosimetry. Traditional tabulated methods such as Medic...
To implement the PMC method to calculate energy deposited by alpha and beta particles emitted from the Ra-224 decay chain....
The GEANT4 (version 10.7) MC toolkit was used to generate databases of precalculated tracks to be integrated in the PMC code as well as to benchmark its output. In this regard, energy spectra of alpha...
In the case of alpha decay, primary alpha particles show the highest contribution (>99%) in deposited energy compared to their secondary particles. In most cases, protons act as the main secondary par...
The PMC code shows good performance for dose calculations deposited by alpha and beta emitters. As a stand-alone algorithm, it is suitable to be integrated into clinical treatment planning systems....
Proteins composed of a single structural unit tandemly repeated multiple times carry out a wide range of functions in biology. There has hence been considerable interest in designing such repeat prote...
While there is increasing recognition that social processes in cities like gentrification have ecological consequences, we lack nuanced understanding of the ways gentrification affects urban biodivers...
Alpha heavy chain disease (αHCD) is a rare variant of the mucosa-associated lymphoid tissue lymphoma characterized by expression of a monotypic truncated immunoglobulin α heavy chain. αHCD frequently ...
The alpha-thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality ...
Knowledge of the primary structure of neuronal NO synthase (nNOS) in skeletal muscle is still conflicting and needs further clarification. To elucidate the expression patterns of nNOS isoforms at both...