𝔖 Bobbio Scriptorium
✦   LIBER   ✦

214 Sjögren-Larsson syndrome: Mutational spectrum in Dutch patients

✍ Scribed by M.A.A.P. Willemsen; L. Ijlst; J.J. Rotteveel; J.G.N. De Jong; P.M. Steijlen; M. Van Werkhoven; R.J.A. Wanders

Book ID
114361066
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
129 KB
Volume
3
Category
Article
ISSN
1090-3798

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spectrum of mutations and sequence varia
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
✍ Anna Sillén; Ingrun Anton-Lamprecht; Cordula Braun-Quentin; Cornelia S. Kraus; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB 👁 2 views

The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he

Computed tomography in Sjögren-Larsson s
Computed tomography in Sjögren-Larsson syndrome
✍ J. M. Gomori; V. Leibovici; A. Zlotogorski; I. Wirguin; S. Haham-Zadeh 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 356 KB

A family with 12 children, 6 of whom had Sjrgren-Larsson syndrome, was studied clinically. On CT, all six siblings with the disease had patchy regions of white matter hypodensity, most marked in the frontal lobes, which were confluent in the more severe cases. The ventricles were not enlarged and no