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

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

Genomic structure of a human holocytochr

Genomic structure of a human holocytochromec-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome

✍ Van den Veyver, Ignatia B.; Subramanian, Stephanie; Zoghbi, Huda Y. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. Several other developmental disorders with or without a neurological phenotype have be

Myelomeningocele and Waardenburg syndrom

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc