A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

ASHRAFI MAHMOUD REZA; TAVASOLI ALI REZA; KATIBEH PEGAH; ARYANI OMID; VAFAEI SHAHI MOHAMMAD

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Iranian Journal of Child Neurology Year:2015 | Volume:9 | Issue:4 Page(s): 54-57

Download Full-Text

View:

242

Download:

Cites:

Information Journal Paper

Title

A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE

Author(s)

Keywords

CANAVAN DISEASE

ASPARTOACYLASE DEFICIENCY

ASPARTOACYLASE ENZYME

ASPA GENE

Abstract

Objective CANAVAN DISEASE (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. ASPARTOACYLASE DEFICIENCY results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA GENE identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature.

Cites

No record.

References

No record.

Cite

APA: Copy

ASHRAFI, MAHMOUD REZA, TAVASOLI, ALI REZA, KATIBEH, PEGAH, ARYANI, OMID, & VAFAEI SHAHI, MOHAMMAD. (2015). A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 9(4), 54-57. SID. https://sid.ir/paper/303588/en

Vancouver: Copy

ASHRAFI MAHMOUD REZA, TAVASOLI ALI REZA, KATIBEH PEGAH, ARYANI OMID, VAFAEI SHAHI MOHAMMAD. A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2015;9(4):54-57. Available from: https://sid.ir/paper/303588/en

IEEE: Copy

MAHMOUD REZA ASHRAFI, ALI REZA TAVASOLI, PEGAH KATIBEH, OMID ARYANI, and MOHAMMAD VAFAEI SHAHI, “A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 9, no. 4, pp. 54–57, 2015, [Online]. Available: https://sid.ir/paper/303588/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops