Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Camila Xu + 425 word(s) 425 2020-12-15 07:25:29

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Glutamate Formiminotransferase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4023 (accessed on 28 September 2026).
Xu C. Glutamate Formiminotransferase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4023. Accessed September 28, 2026.
Xu, Camila. "Glutamate Formiminotransferase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4023 (accessed September 28, 2026).
Xu, C. (2020, December 23). Glutamate Formiminotransferase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4023
Xu, Camila. "Glutamate Formiminotransferase Deficiency." Encyclopedia. Web. 23 December, 2020.
Glutamate Formiminotransferase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency

Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.

genetic conditions

References

  1. Fowler B. The folate cycle and disease in humans. Kidney Int Suppl. 2001Feb;78:S221-9. Review.
  2. Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S,Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS. The molecular basis ofglutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul;22(1):67-73.Erratum in: Hum Mutat. 2003 Nov;22(5):416.
  3. Whitehead VM. Acquired and inherited disorders of cobalamin and folate inchildren. Br J Haematol. 2006 Jul;134(2):125-36. Review.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 823
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback