questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Maladies lysosomiales
Maladies lysosomiales : Questions médicales fréquentes
Diagnostic
5
Maladies lysosomiales
Diagnostic médical
Tests de laboratoire
Biopsie
Symptômes
Diagnostic médical
Antécédents familiaux
Maladies héréditaires
Diagnostic prénatal
Maladies lysosomiales
Symptômes
5
Symptômes
Maladies lysosomiales
Variabilité des symptômes
Maladies lysosomiales
Anomalies congénitales
Malformations
Âge d'apparition
Maladies lysosomiales
Progression de la maladie
Traitement
Prévention
5
Prévention
Dépistage génétique
Conseil génétique
Maladies héréditaires
Vaccination
Maladies génétiques
Tests de porteurs
Prévention
Sensibilisation
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Traitements
5
Thérapie enzymatique
Traitement symptomatique
Thérapie génique
Recherche médicale
Qualité de vie
Traitement
Essais cliniques
Traitements expérimentaux
Accès aux soins
Système de santé
Complications
5
Complications
Maladies lysosomiales
Gestion des complications
Traitement
Qualité de vie
Complications
Variabilité des complications
Maladies lysosomiales
Facteurs de risque
5
Facteurs de risque
Maladies héréditaires
Hérédité
Maladies lysosomiales
Origines ethniques
Facteurs de risque
Facteurs environnementaux
Maladies génétiques
Dépistage préconceptionnel
Conseil génétique
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 30/04/2026
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Veterinary Medicine and Animal Productions, University of Naples Federico II, Via Federico Delpino 1, 80137 Naples, Italy.
Publications dans "Maladies lysosomiales" :
4 publications dans cette catégorie
Affiliations :
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.
Publications dans "Maladies lysosomiales" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.
Publications dans "Maladies lysosomiales" :
3 publications dans cette catégorie
Affiliations :
Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Publications dans "Maladies lysosomiales" :
3 publications dans cette catégorie
Affiliations :
Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Publications dans "Maladies lysosomiales" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.
Publications dans "Maladies lysosomiales" :
3 publications dans cette catégorie
Affiliations :
Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: sidranse@mail.nih.gov.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacology, University of Oxford, Oxford, UK. frances.platt@pharm.ox.ac.uk.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
1 University of Florida, Departments of Pediatrics, Division of Genetics and Metabolism, Neuroscience and Molecular Genetics & Microbiology, Gainesville, FL, USA.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Room 305A, Bogotá D.C, 110231, Colombia.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Room 305A, Bogotá D.C, 110231, Colombia. cjalmeciga@javeriana.edu.co.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland; Faculty of Arts and Sciences, University of Delaware, Newark, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: shunji.tomatsu@nemours.com.
Publications dans "Maladies lysosomiales" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey.
Publications dans "Maladies lysosomiales" :
Lysosomal storage diseases (LSDs) are caused by monogenic mutations in genes encoding for proteins related to the lysosomal function. Lysosome plays critical roles in molecule degradation and cell sig...
Dried blood spots (DBSs) biomarkers are convenient for monitoring for specific lysosomal storage diseases (LSDs), but they could have relevance for other LSDs. To determine the specificity and utility...
The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previo...
An immunopurification strategy was used to isolate intact LE/Lys from frozen autopsy brain samples. LE/Lys isolated from samples of JNCL patients were compared with age-matched unaffected controls and...
Lipid and protein profiles of LE/Lys isolated from JNCL patients were profoundly altered compared to controls. Importantly, cholesterol accumulated in LE/Lys of JNCL samples to a comparable extent tha...
Our results support that JNCL is a lysosomal cholesterol storage disorder. Our findings also support that JNCL and NPC disease share pathogenic pathways leading to aberrant lysosomal accumulation of l...
San Francisco Foundation....
Lysosomal degradation pathways coordinate the clearance of superfluous and damaged cellular components. Compromised lysosomal degradation is a hallmark of many degenerative diseases, including lysosom...
The recently presented Azalea Hypothesis for Alzheimer's disease asserts that iron becomes sequestered, leading to a functional iron deficiency that contributes to neurodegeneration. Iron sequestratio...
In many countries, adult clinics specifically dedicated to adult patients with lysosomal storage diseases (LSDs) do not exist. In Turkey, these patients are managed either by pediatric metabolic speci...
The focus group participants were 24 adult LSD patients. Interviews were conducted in person....
A total of 23 LSD patients and parents of a patient with mucopolysaccharidosis type-3b with intellectual deficit were interviewed, with 84.6% of patients diagnosed after the age of 18 years and 18% of...
With improved care, more patients with LSDs survive into adulthood or receive the diagnosis in adulthood. Children with chronic diseases need to transition to the care of adult physicians when they re...
Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese po...
To evaluate the birth prevalence of the 6 LSDs in the Shanghai population and determine subclinical forms based on clinical, biochemical, and genetic characteristics....
This cohort study included 50 108 newborns recruited from 41 hospitals in Shanghai between January and December 2021 who were screened for 6 LSDs using tandem mass spectrometry (MS/MS). Participants w...
All participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots....
Primary outcomes were the birth prevalence and subclinical forms of the 6 LSDs in the Shanghai population. Disease biomarker measurements, genetic testing, and clinical analysis were used to assess cl...
Among 50 108 newborns (26 036 male [52.0%]; mean [SD] gestational age, 38.8 [1.6] weeks), the mean (SD) birth weight was 3257 (487) g. The MS/MS-based NBS identified 353 newborns who were positive. Of...
In this study, the combined birth prevalence of the 6 LSDs in Shanghai was remarkably high. MS/MS-based newborn screening, combined with biochemical and molecular genetic analysis, successfully identi...
Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited evidence is available on patient preferences for gene therapy in this populatio...
A survey including the probabilistic threshold technique was developed in which respondents were asked to choose between gene therapy and the current standard of care. The attributes included to estab...
A total of 85 surveys were completed (15 Gaucher disease respondents, 62 Fabry disease respondents (17 self-identifying male), eight parents of ten people with mucopolysaccharidosis type III). Disease...
People affected by a lysosomal storage disease associated with a poorer prognosis and less effective current treatment options trended towards more risk tolerance when choosing between gene therapy an...
Spinocerebellar ataxia 34 (SCA34) is a late-onset progressive ataxia caused by a mutation in ELOVL4, a gene involved in the biosynthesis of very long-chain fatty acids (VLCFAs). We performed post-mort...
The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacologic...