0
February 14, 2011, Vol 68, No. 2 >

Full Content is available to subscribers

Subscribe/Learn More
Correspondence | February 14, 2011

Different Phenotypes Among Lesch-Nyhan Variants: Clinical Reality or Limitation of Ascertainment?

Rong Fu, PhD; Hyder A. Jinnah, MD, PhD
Arch Neurol. 2011;68(2):264-271. doi:10.1001/archneurol.2010.360.
Text Size: A A A
Published online
Article
References
Comments

Extract

The recent article by Sarafoglou and colleagues1 includes several statements that deserve further attention. First, the G550>T mutation described is incorrect. Position 550 falls in exon 8, not exon 7, and G550>T would not cause the R167>M substitution claimed. Based on the DNA sequence provided in Figure 2, the actual mutation should be G500>T.2

Next, the index case was reported to have a uric acid level of 231.5 mg/dL, which exceeds the physiological limit of solubility of uric acid in any body fluid by more than 20-fold.3 This should be clarified.

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
First page PDF preview

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

Correspondence

Submit a Letter
CME
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Clear Answers | Save For Later
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Compression-Only CPR: Pushing the Science Forward
Cone
AAM 2010;304:1493-1495.
All you need to read in the other general journals
BMJ 2010;341:c5893-c1494.
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Topics
PubMed Articles
Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Nucleosides Nucleotides Nucleic Acids 2012;;31(8):616-29.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Proc Natl Acad Sci U S A 2012;;109(9):3377-82.
Jobs

More Listings at
JAMACareerCenter.com >

© 2013 American Medical Association. All Rights Reserved.
Powered bySilverchair Information Systems