دورية أكاديمية
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes
| العنوان: | Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes |
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| المؤلفون: | Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, FIORINI, ELENA, Cesaro, Simone |
| المساهمون: | Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, Fiorini, Elena, Cesaro, Simone |
| سنة النشر: | 2019 |
| المجموعة: | Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| مصطلحات موضوعية: | acute disseminated encephalomyelitis (ADEM), cerebellar hypoplasia, hematopoietic stem cell transplantation (HCT), polyglandular autoimmune syndrome type I, pure red cell aplasia (PRCA) |
| الوصف: | The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/30863741; info:eu-repo/semantics/altIdentifier/wos/WOS:000459727000002; volume:7; firstpage:1; lastpage:7; numberofpages:7; journal:FRONTIERS IN PEDIATRICS; http://hdl.handle.net/11562/997277Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064396228 |
| DOI: | 10.3389/fped.2019.00051 |
| الإتاحة: | https://doi.org/10.3389/fped.2019.00051Test http://hdl.handle.net/11562/997277Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.F8D403D0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fped.2019.00051 |
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