Literature DB >> 12969215

Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure.

D Chan1, A M Li, M C Yam, C K Li, T F Fok.   

Abstract

A 6-year-old boy with Hurler's syndrome presented with right heart failure and pulmonary hypertension secondary to severe obstructive sleep apnoea. Both his sleep apnoea and cor pulmonale were effectively controlled with continuous positive airway pressure therapy.

Entities:  

Mesh：

Year:  2003        PMID： 12969215     DOI： 10.1046/j.1440-1754.2003.00218.x

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN： 1034-4810            Impact factor:   1.954


  6 in total

1.  Sleep-related breathing in children with mucopolysaccharidosis.

Authors:  A Nashed; S Al-Saleh; J Gibbons; I MacLusky; J MacFarlane; A Riekstins; J Clarke; I Narang
Journal:  J Inherit Metab Dis       Date:  2009-06-28       Impact factor: 4.982

2.  Cardiac manifestations in the mouse model of mucopolysaccharidosis I.

Authors:  Maria C Jordan; Yi Zheng; Sergey Ryazantsev; Nora Rozengurt; Kenneth P Roos; Elizabeth F Neufeld
Journal:  Mol Genet Metab       Date:  2005-06-24       Impact factor: 4.797

3.  TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Authors:  Alessandra Torraco; Daniela Verrigni; Teresa Rizza; Maria Chiara Meschini; Martha Elisa Vazquez-Memije; Diego Martinelli; Marzia Bianchi; Fiorella Piemonte; Carlo Dionisi-Vici; Filippo Maria Santorelli; Enrico Bertini; Rosalba Carrozzo
Journal:  Neurogenetics       Date:  2012-09-18       Impact factor: 2.660

4.  Home sleep study characteristics in patients with mucopolysaccharidosis.

Authors:  Çiğdem Seher Kasapkara; Leyla Tümer; Ayşe Tana Aslan; Alev Hasanoğlu; Fatih Süheyl Ezgü; Aynur Küçükçongar; Zeynep Tunca; Oğuz Köktürk
Journal:  Sleep Breath       Date:  2013-05-22       Impact factor: 2.816

5.  Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.

Authors:  Roselena Silvestri Schuh; Esteban Alberto Gonzalez; Angela Maria Vicente Tavares; Bruna Gazzi Seolin; Lais de Souza Elias; Luisa Natalia Pimentel Vera; Francyne Kubaski; Edina Poletto; Roberto Giugliani; Helder Ferreira Teixeira; Ursula Matte; Guilherme Baldo
Journal:  Gene Ther       Date:  2019-12-11       Impact factor: 5.250

Review 6.  Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.

Authors:  Benjamin Cross; Karolina M Stepien; Chaitanya Gadepalli; Ahmed Kharabish; Peter Woolfson; Govind Tol; Petra Jenkins
Journal:  Front Cardiovasc Med       Date:  2022-04-04
  6 in total

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