𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

✍ Scribed by Alberto Giannini; Anna Maria Pinto; Giordano Rossetti; Edi Prandi; Danilo Tiziano; Christina Brahe; Nardo Nardocci


Publisher
Springer
Year
2006
Tongue
English
Weight
131 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
✍ 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
✍ 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

Life-threatening respiratory failure due
✍ Farsin Hamzei; Michel Rijntjes; Joystone Gbadamosi; Kornelius Fuchs; Cornelius W πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 264 KB

## Abstract We report on a woman with a an 8‐year history of multiple system atrophy with predominance of parkinsonism who developed jaw‐locking oromandibular dystonia within hours after insertion of ill‐fitting dentures. Dystonia spread rapidly to involve other facial muscles and the larynx causin