skip to main content
Show only
Refined by: collection: OneFile (GALE) remove topic: Fabry Disease remove collection: ProQuest Central Essentials remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to e-Shelf

Young woman with recurrent ischemic strokes diagnosed as Fabry disease: Lessons learned from a case report

Zenone, Thierry ; Chan, Victor Zenone, Thierry (correspondence author)

Clinical Neurology and Neurosurgery, Sep 2011, Vol.113(7), pp.586-588 [Peer Reviewed Journal]

No full-text

View all versions
2
Material Type:
Article
Add to e-Shelf

The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene

Macklin, Sarah ; Laney, Dawn ; Lisi, Emily ; Atherton, Andrea ; Smith, Elizabeth

Journal of Genetic Counseling, Feb 2018, Vol.27(1), pp.217-224 [Peer Reviewed Journal]

Full text available

View all versions
3
Material Type:
Article
Add to e-Shelf

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body

Oikawa, Masayoshi ; Sakamoto, Nobuo ; Kobayashi, Atsushi ; Suzuki, Satoshi ; Yoshihisa, Akiomi ; Yamaki, Takayoshi ; Nakazato, Kazuhiko ; Suzuki, Hitoshi ; Saitoh, Shu-Ichi ; Kiko, Yuichirou ; Nakano, Hajime ; Hayashi, Takeharu ; Kimura, Akinori ; Takeishi, Yasuchika

BMC Cardiovascular Disorders, 2016, Vol.16 [Peer Reviewed Journal]

Full text available

View all versions
4
Material Type:
Article
Add to e-Shelf

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Oder, Daniel ; Vergho, Dorothee ; Ertl, Georg ; Wanner, Christoph ; Nordbeck, Peter

BMC Medical Genetics, 2016, Vol.17 [Peer Reviewed Journal]

Full text available

View all versions
5
Material Type:
Article
Add to e-Shelf

De novo mutation in a male patient with Fabry disease: a case report

Iemolo, Francesco ; Pizzo, Federica ; Albeggiani, Giuseppe ; Zizzo, Carmela ; Colomba, Paolo ; Scalia, Simone ; Bartolotta, Caterina ; Duro, Giovanni

BMC Research Notes, 2014, Vol.7, p.11-11 [Peer Reviewed Journal]

Full text available

View all versions
6
Material Type:
Article
Add to e-Shelf

Presymptomatic diagnosis of Fabry’s disease: a case report

Hasselbalch, Rasmus Bo ; Madsen, Per Lav ; Bundgaard, Henning ; Theilade, Juliane

Journal of Medical Case Reports, 2016, Vol.10 [Peer Reviewed Journal]

Full text available

View all versions
7
Material Type:
Article
Add to e-Shelf

Central nervous system vasculopathy caused by Fabry disease: a case report

Kong, De-Zheng ; Lian, Ya-Hui ; Wang, Lin-Jing ; Wang, Chun-Mei ; Meng, Yang-Yang ; Zhou, Hong-Wei

BMC Neurology, 2019, Vol.19 [Peer Reviewed Journal]

Full text available

View all versions

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Full Text Online (6)

Creation Date 

From To

Suggested New Searches

Ignore my query and look for everything

by this author/creator:

  1. Laney, Dawn
  2. Theilade, Juliane
  3. Nordbeck, Peter
  4. Sakamoto, Nobuo
  5. Albeggiani, Giuseppe

Searching Remote Databases, Please Wait