Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1

Characterization of mutations in patient

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

✍ Cong-Yi Wang; Abdoreza Davoodi-Semiromi; W. Huang; Ellen Connor; Jing-Da Shi; J. 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 47 KB

Polyglandular autoimmune syndrome type 3

Polyglandular autoimmune syndrome type 3 in a patient with ocular myasthenia gravis

✍ Natalie K. Briscoe; Michelle M. Mezei 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB

Autoantibodies in autoimmune polyglandul

Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems

✍ Sergueï O. Fetissov; Sophie Bensing; Jan Mulder; Erwan Le Maitre; Anna-Lena Hult 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 321 KB

## Abstract Patients with autoimmune polyglandular syndrome type I (APS1) often display high titers of autoantibodies (autoAbs) directed against aromatic L‐amino acid decarboxylase (AADC), tyrosine hydroxylase (TH), tryptophan hydroxylase (TPH), and glutamic acid decarboxylase (GAD). Neurological s

Autoantibodies in autoimmune polyglandul

Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems

✍ Sergueï O. Fetissov; Sophie Bensing; Jan Mulder; Erwan Le Maitre; Anna-Lena Hult 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 320 KB

## Abstract Patients with autoimmune polyglandular syndrome type I (APS1) often display high titers of autoantibodies (autoAbs) directed against aromatic L‐amino acid decarboxylase (AADC), tyrosine hydroxylase (TH), tryptophan hydroxylase (TPH), and glutamic acid decarboxylase (GAD). Neurological s

Linkage analysis in a large kindred with

Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome)

✍ Butler, Merlin G. ;Hodes, M. E. ;Conneally, P. M. ;Biegel, Angenieta A. ;Wright, 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 3 views

Schmidt syndrome (PGA syndrome type 11) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband

An 8-year-old boy with autoimmune hepati

An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (aire)

✍ Carla Lintas; Marco Cappa; Donatella Comparcola; Valerio Nobili; Alessandra Fier 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 190 KB