Literature DB >> 16454882

An infant with hypoplastic left heart syndrome and spinal muscular atrophy.

Amanda L Cook1, Christopher L Curzon, Angelo S Milazzo.   

Abstract

We report an infant with hypoplastic left heart syndrome consisting of mitral valvar atresia, aortic valvar atresia, hypoplasia of the aortic arch and coarctation of the aorta, who demonstrated respiratory failure and global hypotonia, and who was eventually diagnosed with spinal muscular atrophy.

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Year:  2006        PMID： 16454882     DOI： 10.1017/S1047951105002131

Source DB:  PubMed          Journal:  Cardiol Young        ISSN： 1047-9511            Impact factor:   1.093


  5 in total

Review 1.  Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Authors:  Monir Shababi; Christian L Lorson; Sabine S Rudnik-Schöneborn
Journal:  J Anat       Date:  2013-07-22       Impact factor: 2.610

2.  SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.

Authors:  Michael P Walker; T K Rajendra; Luciano Saieva; Jennifer L Fuentes; Livio Pellizzoni; A Gregory Matera
Journal:  Hum Mol Genet       Date:  2008-08-08       Impact factor: 6.150

3.  Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.

Authors:  Gillian K Maxwell; Eva Szunyogova; Hannah K Shorrock; Thomas H Gillingwater; Simon H Parson
Journal:  J Anat       Date:  2018-02-22       Impact factor: 2.610

Review 4.  Cardiac pathology in spinal muscular atrophy: a systematic review.

Authors:  C A Wijngaarde; A C Blank; M Stam; R I Wadman; L H van den Berg; W L van der Pol
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123

5.  Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

Authors:  Eva Szunyogova; Haiyan Zhou; Gillian K Maxwell; Rachael A Powis; Francesco Muntoni; Thomas H Gillingwater; Simon H Parson
Journal:  Sci Rep       Date:  2016-10-04       Impact factor: 4.379
  5 in total

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