Výsledky vyhledávání

Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy

Autor: C, Betterle, J, Furmaniak, C, Sabbadin, C, Scaroni, F, Presotto

Publikováno v: Journal of endocrinological investigation.

The number of recognised distinct autoimmune diseases (AIDs) has progressively increased over the years with more than 100 being reported today. The natural history of AIDs is characterized by progression from latent and subclinical to clinical stage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c677423096aeba8e596d3851eb7f3453
https://pubmed.ncbi.nlm.nih.gov/36609775

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Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency

Autor: F. Ceccato, M. Torchio, I. Tizianel, M. Peleg Falb, M. Barbot, C. Sabbadin, C. Betterle, C. Scaroni

Context Fludrocortisone (FC) is the mineralocorticoid (MC) replacement treatment for patients with primary adrenal insufficiency (PAI). Objective To explore the dose of FC treatment and its relationship with glucocorticoid therapy, sodium, potassium,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3435ebf0c11556d713fbdb4c0511d2
http://hdl.handle.net/11577/3453383

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Correction to: A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation

Autor: G. Radetti, A. Puel, R. Franceschi, S. Longhi, N. Gallo, C. Betterle

Publikováno v: Journal of Endocrinological Investigation. 46:437-437

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc6e47da51d3f654fd23935abe423d5b
https://doi.org/10.1007/s40618-022-01965-6

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Akademický článek

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Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

Publikováno v: Journal of Endocrinological Investigation

Background Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5fd2c7ee684fd4d65c71851e2fdb32
http://hdl.handle.net/11568/1123121

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Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients

Autor: A, Fierabracci, A, Arena, F, Toto, N, Gallo, A, Puel, M, Migaud, M, Kumar, K G, Chengappa, R, Gulati, V S, Negi, C, Betterle

Publikováno v: Journal of endocrinological investigation. 44(4)

Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagnosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1f5ea3bf15f3ad98dbe9b5f92d2075ad
https://pubmed.ncbi.nlm.nih.gov/32767280

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Akademický článek

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Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults

Autor: C. Betterle, F. Presotto, Jadwiga Furmaniak

Publikováno v: Journal of endocrinological investigation. 42(12)

Addison’s disease (AD) is a rare disorder and among adult population in developed countries is most commonly caused by autoimmunity. In contrast, in children genetic causes are responsible for AD in the majority of patients. This review describes e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbae44c7953fc4897401145ab4c9f27b
https://pubmed.ncbi.nlm.nih.gov/31321757

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