𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical polydiagnostic studies in a large Swedish pedigree with schizophrenia

✍ Scribed by Lennart Wetterberg; Anne E. Farmer


Publisher
Springer-Verlag
Year
1991
Tongue
English
Weight
317 KB
Volume
240
Category
Article
ISSN
1433-8491

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical signs and symptoms in a large h
✍ Anthony P. Nicholas; Elizabeth O'Hearn; Susan E. Holmes; Dung-Tsa Chen; Russell πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 108 KB

## Abstract The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mutations in the spastin gene on chromosome 2p. This disease is characterized by intra‐ and interfamilial phenotypic variation. To determine the predictive values of clinical signs and sy

Clinical and biochemical heterogeneity i
✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 395 KB πŸ‘ 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo