𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spinal muscular atrophy with respiratory disease (SMARD): an ethical dilemma

✍ Scribed by Andrew Bush

Publisher
Springer
Year
2006
Tongue
English
Weight
51 KB
Volume
32
Category
Article
ISSN
1432-1238

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Infantile spinal muscular atrophy with r
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
✍ Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzk πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 213 KB

## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin μ‐binding protein 2 (__IGHMBP2__)

Clinical and mutational profile in spina
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
✍ Ulf-Peter Guenther; Raymonda Varon; Maria Schlicke; VΓ©ronique Dutrannoy; Alexand πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 311 KB

Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we pre