Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant
Author:
Funder
none reported.
Publisher
Wiley
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ppul.21419/fullpdf
Reference7 articles.
1. Mutations in the gene encoding immunoglobulin µ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1;Grohmann;Nat Genet,2001
2. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings;Rudnik-Schöneborn;Neuropediatrics,1996
3. Respiratory distress as the initial manifestation of Wernig-Hoffmann disease;Mellins;Pediatrics,1974
4. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann Neurol,2003
5. Long-term observations of patients with infant spinal muscular atrophy with respiratory distress type 1 (SMARD1);Rudnik-Schöneborn;Neuropediatrics,2004
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1. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review;Frontiers in Neuroscience;2023-11-17
2. Spinal muscular atrophy with respiratory distress type 1 (smard1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants;The Turkish Journal of Pediatrics;2022
3. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future;Neuromuscular Disorders;2021-12
4. An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1);European Journal of Medical Genetics;2018-10
5. Tachypnoea in a well baby: what to do next?;Archives of Disease in Childhood;2015-03-09
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