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Keywords: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
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Journal Articles

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily

Subject Area:
Endocrinology , Women's and Children's Health
Mariella Valenzise, Alessandra Fierabracci, Marco Cappa, Paolo Porcelli, Roberto Barcellona, Filippo De Luca, Susi Barollo, Silvia Garelli, Corrado Betterle
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (2): 127–132.
https://doi.org/10.1159/000363537
Published Online: 23 July 2014
...Mariella Valenzise; Alessandra Fierabracci; Marco Cappa; Paolo Porcelli; Roberto Barcellona; Filippo De Luca; Susi Barollo; Silvia Garelli; Corrado Betterle Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused...
View article titled, <span class="search-highlight">Autoimmune</span> <span class="search-highlight">Polyendocrinopathy</span>-<span class="search-highlight">Candidiasis</span>-<span class="search-highlight">Ectodermal</span> <span class="search-highlight">Dystrophy</span>: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily
Open the PDF for <span class="search-highlight">Autoimmune</span> <span class="search-highlight">Polyendocrinopathy</span>-<span class="search-highlight">Candidiasis</span>-<span class="search-highlight">Ectodermal</span> <span class="search-highlight">Dystrophy</span>: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily in another window
Journal Articles

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

Subject Area:
Endocrinology , Women's and Children's Health
Elizaveta M. Orlova, Anna M. Bukina, Elvira S. Kuznetsova, Maria A. Kareva, Ekaterina U. Zakharova, Valentina A. Peterkova, Ivan I. Dedov
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2010) 73 (6): 449–457.
https://doi.org/10.1159/000313585
Published Online: 20 April 2010
... dystrophy Autoimmunity Adrenal insufficiency Chronic candidiasis Hypoparathyroidism Metaphyseal dysplasia Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (OMIM 240300), is a rare autoimmune disorder associated...
View article titled, Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Open the PDF for Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations in another window
Journal Articles

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Presenting with Severe Keratopathy in an Egyptian Patient with a Homozygous R139X Mutation

Subject Area:
Endocrinology , Women's and Children's Health
Sameh Tawfik, Mohammed Abd Azim, Part Peterson, Malcolm D.C. Donaldson
Journal: Hormone Research in Paediatrics
Hormone Research (2005) 64 (2): 96–99.
https://doi.org/10.1159/000088307
Published Online: 13 October 2005
...Sameh Tawfik; Mohammed Abd Azim; Part Peterson; Malcolm D.C. Donaldson Objective: To report a patient with an unusual presentation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and severe keratopathy. Case History: An Egyptian male sustained an injury to the left eye...
View article titled, <span class="search-highlight">Autoimmune</span> <span class="search-highlight">Polyendocrinopathy</span>-<span class="search-highlight">Candidiasis</span>-<span class="search-highlight">Ectodermal</span> <span class="search-highlight">Dystrophy</span> Presenting with Severe Keratopathy in an Egyptian Patient with a Homozygous R139X Mutation
Open the PDF for <span class="search-highlight">Autoimmune</span> <span class="search-highlight">Polyendocrinopathy</span>-<span class="search-highlight">Candidiasis</span>-<span class="search-highlight">Ectodermal</span> <span class="search-highlight">Dystrophy</span> Presenting with Severe Keratopathy in an Egyptian Patient with a Homozygous R139X Mutation in another window