Literature DB >> 18434155

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease).

Nomazulu Dlamini1, Wajanat Jan, Fiona Norwood, Jennie Sheehan, Rachael Spahr, Safa Al-Sarraj, J Anthony Hulse, Derralynn Hughes, Michael P Champion, Heinz Jungbluth.   

Abstract

Entities:  

Mesh：

Year:  2008        PMID： 18434155     DOI： 10.1016/j.nmd.2008.02.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


× No keyword cloud information.
  7 in total

1.  Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency.

Authors:  Craig M Zaidman; Elizabeth C Malkus; Catherine Siener; Julaine Florence; Alan Pestronk; Muhammad Al-Lozi
Journal:  Muscle Nerve       Date:  2011-07-13       Impact factor: 3.217

2.  Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.

Authors:  Andrew Del Gaizo; Sima Banerjee; Michael Terk
Journal:  Skeletal Radiol       Date:  2009-12       Impact factor: 2.199

3.  Muscle MRI in patients with long-chain fatty acid oxidation disorders.

Authors:  Eugene F Diekman; W Ludo van der Pol; Rutger A J Nievelstein; Sander M Houten; Frits A Wijburg; Gepke Visser
Journal:  J Inherit Metab Dis       Date:  2013-12-05       Impact factor: 4.982

4.  251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

Authors:  Pascal Laforêt; Anders Oldfors; Edoardo Malfatti; John Vissing
Journal:  Neuromuscul Disord       Date:  2021-01-23       Impact factor: 4.296

5.  Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy.

Authors:  André Lollert; Clemens Stihl; Andreas M Hötker; Eugen Mengel; Jochem König; Katharina Laudemann; Seyfullah Gökce; Christoph Düber; Gundula Staatz
Journal:  PLoS One       Date:  2018-01-09       Impact factor: 3.240

6.  Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

Authors:  Kai Michael Gruhn; Christoph Malte Heyer; Anne-Katrin Güttsches; Robert Rehmann; Volkmar Nicolas; Tobias Schmidt-Wilcke; Martin Tegenthoff; Matthias Vorgerd; Rudolf Andre Kley
Journal:  Mol Genet Metab Rep       Date:  2015-04-21

7.  Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Authors:  Steven Shinn-Forng Peng; Wuh-Liang Hwu; Ni-Chung Lee; Fuu-Jen Tsai; Wen-Hui Tsai; Yin-Hsiu Chien
Journal:  Orphanet J Rare Dis       Date:  2016-05-17       Impact factor: 4.123
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.