Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Fabiola Caracseghi"'
Autor:
Fabiola Caracseghi, Jaume Izquierdo-Blasco, Angel Sanchez-Montanez, Susana Melendo-Perez, Manuel Roig-Quilis, Consuelo Modesto
Publikováno v:
Case Reports in Rheumatology, Vol 2011 (2011)
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern
Externí odkaz:
https://doaj.org/article/4f101b0710fc49b2839de74b76404132
Autor:
Concepció Figueras-Nadal, Andrea Martín-Nalda, Elena Cobos-Carrascosa, Fabiola Caracseghi, María Méndez Hernández, Pere Soler-Palacín
Publikováno v:
Anales de Pediatría, Vol 84, Iss 2, Pp 70-78 (2016)
Resumen: Introducción: El déficit selectivo de IgA (DSIgA) es la inmunodeficiencia primaria más frecuente, siendo a menudo asintomática. Se ha descrito una elevada agregación familiar, sin conocerse el defecto genético causante ni su mecanismo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9f4033b6447c14edab48adae15e148
http://www.sciencedirect.com/science/article/pii/S1695403315002088
http://www.sciencedirect.com/science/article/pii/S1695403315002088
Autor:
Consuelo Modesto, Manuel Roig-Quilis, Jaume Izquierdo-Blasco, Angel Sanchez-Montanez, Fabiola Caracseghi, Susana Melendo-Perez
Publikováno v:
Case Reports in Rheumatology, Vol 2011 (2011)
Case Reports in Rheumatology
Case Reports in Rheumatology
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f059f53c57ad056ff6fe7015e68c87c
https://doi.org/10.1155/2011/134106
https://doi.org/10.1155/2011/134106
Publikováno v:
Clinical Cases in Primary Immunodeficiency Diseases ISBN: 9783642317842
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27a6d32e8a475fbec59728bf58d62802
https://doi.org/10.1007/978-3-642-31785-9_1
https://doi.org/10.1007/978-3-642-31785-9_1
Autor:
Tim Niehues, Isil Barlan, Elif Karakoç Aydıner, Pere Soler-Palacín, Teresa Espanol, Cristina Fillat, Fabiola Caracseghi, Nima Rezaei
Publikováno v:
Clinical Cases in Primary Immunodeficiency Diseases ISBN: 9783642317842
Five broad and major groups of PID classification have been known as CID, PAD, phagocyte disorders, complement deficiencies, as well as other well-defined immunodeficiency syndromes. The former includes Wiskott-Aldrich syndrome (WAS), which presents
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f6143e7284e707c4912951927901905
https://doi.org/10.1007/978-3-642-31785-9_9
https://doi.org/10.1007/978-3-642-31785-9_9
Autor:
Fabiola Caracseghi, Arantxa Ortega, Miquel Gussinyer, Antonio Carrascosa, Marian Albisu, Elida Vazquez, Maria Clemente, Diego Yeste
Publikováno v:
Hormone research in paediatrics. 75(3)
Background: FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas. Case Report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3715a8ac320d4f2be1dcccbb3752217a
https://pubmed.ncbi.nlm.nih.gov/21196695
https://pubmed.ncbi.nlm.nih.gov/21196695