Case Report: A Girl with Farber Disease Treated with Bone Marrow Transplantation

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.

Mirhosseini Naser Ali; FARASAT ELHAM; Sheikhpour Elnaz

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

Journal Paper

Paper Information

Journal: WORLD JOURNAL OF PERI AND NEONATOLOGY Year:2018 | Volume:1 | Issue:1 Page(s): 56-58

Download Full-Text

View:

115

Download:

Cites:

Information Journal Paper

Title

Case Report: A Girl with Farber Disease Treated with Bone Marrow Transplantation

Author(s)

Mirhosseini Naser Ali | FARASAT ELHAM | Sheikhpour Elnaz | Issue Writer Certificate

Keywords

Farber disease

Bone marrow transplantation

CNS involvement

Abstract

Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement. Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c. 830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with Bone marrow transplantation. After that her signs and symptoms were improved and she could to walk. Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, Bone marrow transplantation improved these symptoms.

Cites

No record.

References

No record.

Cite

APA: Copy

Mirhosseini, Naser Ali, FARASAT, ELHAM, & Sheikhpour, Elnaz. (2018). Case Report: A Girl with Farber Disease Treated with Bone Marrow Transplantation. WORLD JOURNAL OF PERI AND NEONATOLOGY, 1(1), 56-58. SID. https://sid.ir/paper/355063/en

Vancouver: Copy

Mirhosseini Naser Ali, FARASAT ELHAM, Sheikhpour Elnaz. Case Report: A Girl with Farber Disease Treated with Bone Marrow Transplantation. WORLD JOURNAL OF PERI AND NEONATOLOGY[Internet]. 2018;1(1):56-58. Available from: https://sid.ir/paper/355063/en

IEEE: Copy

Naser Ali Mirhosseini, ELHAM FARASAT, and Elnaz Sheikhpour, “Case Report: A Girl with Farber Disease Treated with Bone Marrow Transplantation,” WORLD JOURNAL OF PERI AND NEONATOLOGY, vol. 1, no. 1, pp. 56–58, 2018, [Online]. Available: https://sid.ir/paper/355063/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops