التفاصيل البيبلوغرافية
العنوان:
Familial deep cavitating state with a glutathione metabolism defect
المؤلفون:
Christelle Corne , John Rendu , Julie Brocard , Gérard Besson , Laetitia Van Noolen , Catherine Garrel , Isabelle Marty , Julien Fauré
المصدر:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2573-2578 (2019)
بيانات النشر:
Wiley, 2019.
سنة النشر:
2019
مصطلحات موضوعية:
Adult , Male , 0301 basic medicine , Glutathione metabolism , Pathology , medicine.medical_specialty , Neurosciences. Biological psychiatry. Neuropsychiatry , Disease , Brief Communication , White matter , 03 medical and health sciences , 0302 clinical medicine , Basal Ganglia Diseases , Basal ganglia , medicine , NIT1 , Humans , In patient , RC346-429 , medicine.diagnostic_test , business.industry , General Neuroscience , Brain Diseases, Metabolic, Inborn , Magnetic resonance imaging , Middle Aged , Glutathione , Magnetic Resonance Imaging , 030104 developmental biology , medicine.anatomical_structure , Brain lesions , Neurology (clinical) , Neurology. Diseases of the nervous system , Brief Communications , business , 030217 neurology & neurosurgery , RC321-571
الوصف:
Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ganglia lesions. Genetic explorations of this family revealed a new hereditary disease linked to glutathione metabolism.
اللغة:
English
تدمد:
2328-9503
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4ff0ed1421becdea42d6b214c4f051Test https://doaj.org/article/30b02148488d4e23af7aad50da979d9fTest
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....3f4ff0ed1421becdea42d6b214c4f051
قاعدة البيانات:
OpenAIRE
