𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)

✍ Scribed by Šantavá, Alena ;Zapletalová, Jiřina ;Michálková, Kamila ;Hanáková, Stanislava ;Kopřiva, František ;Šantavý, Jiří ;Dušek, Jaroslav ;Kleinová, Dušana

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
365 KB
Volume
49
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autoimmune enteropathy in Schimke immuno
Autoimmune enteropathy in Schimke immunoosseous dysplasia
✍ Kaitila, I.; Savilahti, E.; �rm�l�, T. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in

Schimke immunoosseous dysplasia complica
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon
✍ Boerkoel, Cornelius F.; Nowaczyk, Malgorzata J.M.; Blaser, Susan I.; Meschino, W 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia ha

Mental retardation and seizure disorder
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia
✍ Sigurdardottir, Solveig; Myers, Scott M.; Woodworth, James M.; Raymond, Gerald V 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising spondyloepiphyseal dysplasia, nephrotic syndrome, defective T-cell-mediated immunity, and vascular changes which can lead to cerebral infarcts. The cause is unknown but an autosomal recessive inheritance pattern has b