We have located links that may give you full text access.
Case Reports
Journal Article
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).
Neurology 2000 January 11
The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral valves required surgery. Fibroblast beta-glucocerebrosidase activity was markedly reduced. Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation. Relating this rare phenotype of Gaucher disease to D409H mutation will facilitate management of the disease and counseling of families.
Full text links
Related Resources
Trending Papers
Mineralocorticoid Receptor Antagonists in Heart Failure: An Update.Circulation. Heart Failure 2024 November 25
Myocardial infarction with nonobstructive coronary arteries: Current management strategies.Cleveland Clinic Journal of Medicine 2024 December 2
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app