Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-06-02)
<b>Context:</b>
Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined
by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insuffi-
ciency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse.
<b>Objective:</b>
To describe the phenotypes of APS1 and correlate the ...