๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies

โœ Scribed by McDowell, Geraldine A. ;Cowan, Tina M. ;Blitzer, Miriam G. ;Greene, Carol L.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
416 KB
Volume
47
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Variable expression of rib, pectus, and
โœ Stalker, Heather J.; Zori, Roberto T. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 2 views

We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib ''dysplasia,'' scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalie

Compound heterozygosity for a disease-ca
โœ Giunta, Cecilia; Steinmann, Beat ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 55 KB ๐Ÿ‘ 1 views

The classical type of Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder characterized by skin hyperelasticity, tissue fragility, and joint hypermobility. We investigated the molecular defect of EDS in a three-generation family. Cultured dermal fibroblasts from the prop