Literature DB >> 15126982

Pompe disease in infants and children.

Priya Sunil Kishnani1, R Rodney Howell.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15126982     DOI： 10.1016/j.jpeds.2004.01.053

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  69 in total

1.  Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Authors:  Stefania Zampieri; Emanuele Buratti; Silvia Dominissini; Anna Lisa Montalvo; Maria Gabriela Pittis; Bruno Bembi; Andrea Dardis
Journal:  Eur J Hum Genet       Date:  2010-12-22       Impact factor: 4.246

2.  Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.

Authors:  Kai Qiu; Darin J Falk; Paul J Reier; Barry J Byrne; David D Fuller
Journal:  Mol Ther       Date:  2011-10-18       Impact factor: 11.454

3.  Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

Authors:  Piers C A Barker; Sara K Pasquali; Stephen Darty; Richard J Ing; Jennifer S Li; Raymond J Kim; Stephanie DeArmey; Priya S Kishnani; Michael J Campbell
Journal:  Mol Genet Metab       Date:  2010-07-23       Impact factor: 4.797

Review 4.  Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

Authors:  Marianne Rohrbach; Joe T R Clarke
Journal:  Drugs       Date:  2007       Impact factor: 9.546

5.  Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.

Authors:  A J McVie-Wylie; K L Lee; H Qiu; X Jin; H Do; R Gotschall; B L Thurberg; C Rogers; N Raben; M O'Callaghan; W Canfield; L Andrews; J M McPherson; R J Mattaliano
Journal:  Mol Genet Metab       Date:  2008-06-05       Impact factor: 4.797

6.  Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.

Authors:  Tao Sun; Haiqing Yi; Chunyu Yang; Priya S Kishnani; Baodong Sun
Journal:  J Biol Chem       Date:  2016-06-29       Impact factor: 5.157

Review 7.  Pompe disease gene therapy.

Authors:  Barry J Byrne; Darin J Falk; Christina A Pacak; Sushrusha Nayak; Roland W Herzog; Melissa E Elder; Shelley W Collins; Thomas J Conlon; Nathalie Clement; Brian D Cleaver; Denise A Cloutier; Stacy L Porvasnik; Saleem Islam; Mai K Elmallah; Anatole Martin; Barbara K Smith; David D Fuller; Lee Ann Lawson; Cathryn S Mah
Journal:  Hum Mol Genet       Date:  2011-04-25       Impact factor: 6.150

8.  Chagasic cardiomyopathy and Pompe disease: case report.

Authors:  Rafael Ob de Morais; Ândrea V Chaves-Markman; Anna Pp Miranda; Ingrid G Amorim; Maria da Ga de M Cavalcanti; Manuel Markman; Brivaldo Markman-Filho
Journal:  Am J Cardiovasc Dis       Date:  2018-04-05

9.  Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Authors:  Jami C Levine; Priya S Kishnani; Y T Chen; J Rene Herlong; Jennifer S Li
Journal:  Pediatr Cardiol       Date:  2008-07-26       Impact factor: 1.655

10.  Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease.

Authors:  Michael Beck
Journal:  Ther Clin Risk Manag       Date:  2009-09-24       Impact factor: 2.423
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.