questionsmedicales.fr
Lipides
Lipides membranaires
Sphingolipides
Glycosphingolipides
Glycosphingolipides acides
Gangliosides
Gangliosides : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Maladies métaboliques
Tests génétiques
Symptômes neurologiques
Dysfonction musculaire
Imagerie par résonance magnétique
Anomalies cérébrales
Antécédents familiaux
Maladies génétiques
Symptômes
5
Troubles neurologiques
Retard de développement
Système nerveux
Fonctionnement neuronal
Lésions cutanées
Anomalies pigmentaires
Troubles cognitifs
Accumulation de gangliosides
Douleurs musculaires
Atteinte musculaire
Prévention
5
Prévention
Dépistage génétique
Conseil génétique
Risque familial
Vaccinations
Prévention des maladies
Alimentation équilibrée
Santé générale
Tests de dépistage
Mutations génétiques
Traitements
5
Thérapie enzymatique
Gestion des symptômes
Thérapie génique
Recherche médicale
Essais cliniques
Traitements expérimentaux
Soutien nutritionnel
Qualité de vie
Complications
5
Complications neurologiques
Infections
Handicaps
Dysfonctionnement
Maladies auto-immunes
Maladies métaboliques
Complications
Gestion des symptômes
Gestion des complications
Approche multidisciplinaire
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Origines ethniques
Risque génétique
Facteurs environnementaux
Risque
Antécédents médicaux
Maladies métaboliques
Mutations héréditaires
Transmission génétique
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Gangliosides : Questions médicales les plus fréquentes",
"headline": "Gangliosides : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Gangliosides : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-01-06",
"dateModified": "2025-03-31",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Gangliosides"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Glycosphingolipides acides",
"url": "https://questionsmedicales.fr/mesh/D020384",
"about": {
"@type": "MedicalCondition",
"name": "Glycosphingolipides acides",
"code": {
"@type": "MedicalCode",
"code": "D020384",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D10.570.877.360.025"
}
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Ganglioside GM1",
"alternateName": "G(M1) Ganglioside",
"url": "https://questionsmedicales.fr/mesh/D005677",
"about": {
"@type": "MedicalCondition",
"name": "Ganglioside GM1",
"code": {
"@type": "MedicalCode",
"code": "D005677",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D10.570.877.360.025.475.390"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Ganglioside GM2",
"alternateName": "G(M2) Ganglioside",
"url": "https://questionsmedicales.fr/mesh/D005678",
"about": {
"@type": "MedicalCondition",
"name": "Ganglioside GM2",
"code": {
"@type": "MedicalCode",
"code": "D005678",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D10.570.877.360.025.475.400"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Ganglioside GM3",
"alternateName": "G(M3) Ganglioside",
"url": "https://questionsmedicales.fr/mesh/D005679",
"about": {
"@type": "MedicalCondition",
"name": "Ganglioside GM3",
"code": {
"@type": "MedicalCode",
"code": "D005679",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D10.570.877.360.025.475.510"
}
}
}
],
"about": {
"@type": "MedicalCondition",
"name": "Gangliosides",
"alternateName": "Gangliosides",
"code": {
"@type": "MedicalCode",
"code": "D005732",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Sandro Sonnino",
"url": "https://questionsmedicales.fr/author/Sandro%20Sonnino",
"affiliation": {
"@type": "Organization",
"name": "Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy. sandro.sonnino@unimi.it."
}
},
{
"@type": "Person",
"name": "Laura Mauri",
"url": "https://questionsmedicales.fr/author/Laura%20Mauri",
"affiliation": {
"@type": "Organization",
"name": "Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy."
}
},
{
"@type": "Person",
"name": "Jin-Ichi Inokuchi",
"url": "https://questionsmedicales.fr/author/Jin-Ichi%20Inokuchi",
"affiliation": {
"@type": "Organization",
"name": "Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan."
}
},
{
"@type": "Person",
"name": "Ronald L Schnaar",
"url": "https://questionsmedicales.fr/author/Ronald%20L%20Schnaar",
"affiliation": {
"@type": "Organization",
"name": "Departments of Pharmacology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, United States."
}
},
{
"@type": "Person",
"name": "Massimo Aureli",
"url": "https://questionsmedicales.fr/author/Massimo%20Aureli",
"affiliation": {
"@type": "Organization",
"name": "Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Characteristics of children of the Microcephaly Epidemic Research Group Pediatric Cohort who developed postnatal microcephaly.",
"datePublished": "2022-09-22",
"url": "https://questionsmedicales.fr/article/36138062",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1038/s41598-022-19389-w"
}
},
{
"@type": "ScholarlyArticle",
"name": "SHORT syndrome with microcephaly and developmental delay.",
"datePublished": "2022-12-14",
"url": "https://questionsmedicales.fr/article/36515361",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/ajmg.a.63078"
}
},
{
"@type": "ScholarlyArticle",
"name": "Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.",
"datePublished": "2023-02-16",
"url": "https://questionsmedicales.fr/article/36831309",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/cells12040642"
}
},
{
"@type": "ScholarlyArticle",
"name": "Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.",
"datePublished": "2024-09-06",
"url": "https://questionsmedicales.fr/article/39243045",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s12920-024-01999-0"
}
},
{
"@type": "ScholarlyArticle",
"name": "Molecular Genetic Analysis of Newborns with Congenital Microcephaly.",
"datePublished": "2022-06-16",
"url": "https://questionsmedicales.fr/article/35709690",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1159/000525073"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Lipides",
"item": "https://questionsmedicales.fr/mesh/D008055"
},
{
"@type": "ListItem",
"position": 3,
"name": "Lipides membranaires",
"item": "https://questionsmedicales.fr/mesh/D008563"
},
{
"@type": "ListItem",
"position": 4,
"name": "Sphingolipides",
"item": "https://questionsmedicales.fr/mesh/D013107"
},
{
"@type": "ListItem",
"position": 5,
"name": "Glycosphingolipides",
"item": "https://questionsmedicales.fr/mesh/D006028"
},
{
"@type": "ListItem",
"position": 6,
"name": "Glycosphingolipides acides",
"item": "https://questionsmedicales.fr/mesh/D020384"
},
{
"@type": "ListItem",
"position": 7,
"name": "Gangliosides",
"item": "https://questionsmedicales.fr/mesh/D005732"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Gangliosides - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Gangliosides",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-08",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Gangliosides",
"description": "Comment diagnostiquer une maladie liée aux gangliosides ?\nQuels tests sont utilisés pour détecter les gangliosides ?\nLes symptômes peuvent-ils indiquer un problème de gangliosides ?\nQuelle imagerie est utile pour évaluer les gangliosides ?\nLes antécédents familiaux sont-ils importants pour le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Gangliosides",
"description": "Quels sont les symptômes courants des gangliosidoses ?\nLes gangliosides affectent-ils le système nerveux ?\nPeut-on observer des symptômes cutanés ?\nLes troubles cognitifs sont-ils liés aux gangliosides ?\nLes douleurs musculaires sont-elles un symptôme ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Gangliosides",
"description": "Peut-on prévenir les gangliosidoses ?\nLe conseil génétique est-il recommandé ?\nLes vaccinations peuvent-elles aider ?\nL'alimentation peut-elle jouer un rôle préventif ?\nLes tests de dépistage sont-ils utiles ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Gangliosides",
"description": "Quels traitements existent pour les gangliosidoses ?\nLa thérapie génique est-elle une option ?\nLes médicaments peuvent-ils aider ?\nY a-t-il des traitements expérimentaux disponibles ?\nLe soutien nutritionnel est-il important ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Gangliosides",
"description": "Quelles complications peuvent survenir ?\nLes gangliosidoses peuvent-elles entraîner des handicaps ?\nY a-t-il un risque accru de maladies associées ?\nLes complications sont-elles réversibles ?\nComment gérer les complications ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Gangliosides",
"description": "Quels sont les facteurs de risque des gangliosidoses ?\nLes origines ethniques influencent-elles le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes antécédents médicaux familiaux sont-ils significatifs ?\nLes mutations génétiques sont-elles héréditaires ?",
"url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Microcephaly#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une maladie liée aux gangliosides ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests génétiques, des analyses biochimiques et des biopsies."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour détecter les gangliosides ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests sanguins et des analyses de tissus peuvent être effectués pour détecter les gangliosides."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils indiquer un problème de gangliosides ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes neurologiques ou musculaires peuvent suggérer une dysfonction des gangliosides."
}
},
{
"@type": "Question",
"name": "Quelle imagerie est utile pour évaluer les gangliosides ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'IRM peut aider à visualiser les anomalies cérébrales associées aux gangliosidoses."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les antécédents familiaux de maladies génétiques peuvent orienter le diagnostic."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants des gangliosidoses ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles neurologiques, des retards de développement et des problèmes moteurs."
}
},
{
"@type": "Question",
"name": "Les gangliosides affectent-ils le système nerveux ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les gangliosides sont essentiels pour le fonctionnement normal du système nerveux."
}
},
{
"@type": "Question",
"name": "Peut-on observer des symptômes cutanés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines gangliosidoses peuvent provoquer des lésions cutanées ou des anomalies pigmentaires."
}
},
{
"@type": "Question",
"name": "Les troubles cognitifs sont-ils liés aux gangliosides ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs peuvent survenir en raison de l'accumulation de gangliosides dans le cerveau."
}
},
{
"@type": "Question",
"name": "Les douleurs musculaires sont-elles un symptôme ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs musculaires peuvent être présentes en raison de l'atteinte des gangliosides."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les gangliosidoses ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est limitée, mais le dépistage génétique peut aider à identifier les porteurs."
}
},
{
"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le conseil génétique est conseillé pour les familles à risque de gangliosidoses."
}
},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les gangliosidoses, mais protègent contre d'autres maladies."
}
},
{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut soutenir la santé générale, mais ne prévient pas les gangliosidoses."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage sont-ils utiles ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests de dépistage peuvent identifier les porteurs de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les gangliosidoses ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thérapie enzymatique, la gestion des symptômes et le soutien psychologique."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en cours d'étude pour certaines gangliosidoses, mais n'est pas encore standard."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments peuvent soulager les symptômes, mais ne traitent pas la cause sous-jacente."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux disponibles ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques sont en cours pour de nouveaux traitements des gangliosidoses."
}
},
{
"@type": "Question",
"name": "Le soutien nutritionnel est-il important ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un soutien nutritionnel peut aider à améliorer la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves, des infections et des problèmes respiratoires."
}
},
{
"@type": "Question",
"name": "Les gangliosidoses peuvent-elles entraîner des handicaps ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines gangliosidoses peuvent entraîner des handicaps physiques ou mentaux permanents."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir un risque accru de maladies auto-immunes ou métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "La plupart des complications des gangliosidoses ne sont pas réversibles et nécessitent une gestion."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite une approche multidisciplinaire incluant médecins et thérapeutes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque des gangliosidoses ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des origines ethniques spécifiques."
}
},
{
"@type": "Question",
"name": "Les origines ethniques influencent-elles le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations, comme les Ashkénazes, ont un risque plus élevé de gangliosidoses."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux familiaux sont-ils significatifs ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents médicaux de maladies métaboliques augmentent le risque de gangliosidoses."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les mutations génétiques responsables des gangliosidoses sont souvent héréditaires."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 31/03/2025
Contenu vérifié selon les dernières recommandations médicales
6 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy. sandro.sonnino@unimi.it.
5 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
5 publications dans cette catégorie
Affiliations :
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Core for Medicine and Science Collaborative Research and Education (MS-CORE), Project Research Center for Fundamental Sciences, Osaka University, Japan.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Departments of Pharmacology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Research team for Geriatric Medicine (Vascular Medicine), Tokyo Metropolitan Institute of Gerontology, Sakaecho 35-2, Itabashi-ku, Tokyo 173-0015, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Research team for Geriatric Medicine (Vascular Medicine), Tokyo Metropolitan Institute of Gerontology, Sakaecho 35-2, Itabashi-ku, Tokyo 173-0015, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Pharmacology, Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Via Fratelli Cervi 93, Segrate, Milano, 20054, Italy. elena.chiricozzi@unimi.it.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Via Fratelli Cervi 93, Segrate, Milano, 20054, Italy.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Social Medicine and Health Education, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China. Email: yumeiz2020@126.com.
Publications dans "Gangliosides" :
The number of studies published on postnatal microcephaly in children with Congenital Zika Syndrome is small, clinical presentations vary and aspects of the evolution of these children remain unclarif...
We report a boy with typical clinical features of SHORT syndrome alongside a significant microcephaly and severe developmental delay associated with a de novo single nucleotide missense DNA variant re...
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus categorized into several subtypes. However, the recent bloom of disease-gene discoveries has revealed more ov...
Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and ...
We present a case of a female patient initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant. She was referred to our genetic department due to her unusually sm...
This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient. This case underscores the complexity of geneti...
Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in China remains unknown....
Sixty-one neonates with CM who were hospitalized in the Children's Hospital of Fudan University between August 1, 2016, and August 31, 2020, were enrolled, and the clinical data and clinical exome-seq...
Among the 61 neonates with CM, 35 (57.4%) patients were identified with genetic findings, including 24 patients with single nucleotide variants (SNVs) and 11 patients with copy number variations (CNVs...
Comprehensive genetic testing, detecting both SNVs and CNVs, is recommended for newborns with CM. Patients with genetic findings should be aware of the potential for developmental delay. ASPM gene def...
To describe the feeding characteristics and growth of children with prenatal exposure to Zika virus (ZIKV) from birth to 48 months....
Using data from the prospective Microcephaly Epidemic Research Group Pediatric Cohort (MERG-PC), children without microcephaly born to mothers with evidence of ZIKV infection during pregnancy (ZIKV-ex...
The first assessment included 248 children, 77 (31.05%) with microcephaly and 171 (68.95%) without microcephaly. The final assessment was performed on 86 children. Prematurity was 2.35 times higher an...
Children with Zika-related microcephaly were more frequently premature and low birth weight and remained with nutritional parameters, i.e., weight-for-age, weight-for-length/height and length/height-f...
To describe ocular findings in infants with signs of congenital Zika virus syndrome (CZS) in Paraíba, Brazil, as well as to conduct a literature review and report correlations with published clinical ...
In the Paraíba sample, infants with microcephaly suggestive of CZS were classified as Z (confirmed), PZ (probable), or SZ (suspected) according to serological testing and/or clinical findings of CZS. ...
Ocular findings were present in 24 (42.9%) of 56 patients, consisting of gross retinal pigmentation in 11 (45.8%), macular chorioretinal atrophy in 11 (45.8%), optic nerve hypoplasia in 1 (4.2%), opti...
Ocular findings similar and consistent with the literature on CZS were observed with considerable frequency and severity, regardless of the patients' serological confirmation or classification. Infant...
Some children with severe microcephaly related to Zika virus infection show affective social-like behavior, such as smiling and rejection to a stranger's lap. Our objective was to check the associatio...
Protein phosphatase 1 regulatory subunit 35 (PPP1R35) encodes a centrosomal protein required for recruiting microtubule-binding elongation machinery. Several proteins in this centriole biogenesis path...
Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include microcephaly, multiple cutaneous capillary...