Letter to Editor

Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Volume: 11 Number: 5 September 17, 2021
Journal of Contemporary Medicine Cover
Journal of Contemporary Medicine
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Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Abstract

Yenidoğan döneminde birleşik heterozigot Niemann-Pick Type C hastalığı Niemann-Pick Tip C hastalığı (NPC), esterifiye olmamış kolesterollerin lizozomlarda depolanması ile karekterize nörodejeneratif bir lizozomal depo hastalığıdır. Otozomal resesif kalıtılan bu hastalıktan NPC1 or NPC2 genleri sorumludur (1). Burada, kardeşi yenidoğan döneminde Niemann-Pick Tip C hastalığı tanısı alan ve NPC1 genetik analizi sonucunda birleşik heterozigot Niemann-Pick Tip C hastalığı saptanan yenidoğan olgusu sunuldu.

Keywords

References

  1. 1. Sitarska D, Ługowska A. Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism. Metab Brain Dis 2019; 34: 1253-60.
  2. 2. Surmeli-Onay O, Yakarisik S, Korkmaz A, et al. Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis. Pediatr Neonatol 2013; 54: 344-7.
  3. 3. Spiegel R., Raas-Rothschild A., Reish O., et. al. The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A. 2009; 149A: pp. 446-50.

Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Letter to Editor

Authors

Zerrin Yilmaz This is me
0000-0001-9158-220X
Türkiye

Publication Date

September 17, 2021

Submission Date

March 5, 2021

Acceptance Date

April 20, 2021

Published in Issue

Year 2021 Volume: 11 Number: 5

DOI

https://doi.org/10.16899/jcm.891827

IZ

https://izlik.org/JA46FP43JD

Cite

RIS / Bibtex
APA
Turan, Ö., Anuk-ince, D., Yilmaz, Z., & Ecevit, A. (2021). Compound heterozygous Niemann-Pick Type C disease in the neonatal period. Journal of Contemporary Medicine, 11(5), 747-748. https://doi.org/10.16899/jcm.891827
AMA
1.Turan Ö, Anuk-ince D, Yilmaz Z, Ecevit A. Compound heterozygous Niemann-Pick Type C disease in the neonatal period. J Contemp Med. 2021;11(5):747-748. doi:10.16899/jcm.891827
Chicago
Turan, Özden, Deniz Anuk-ince, Zerrin Yilmaz, and Ayşe Ecevit. 2021. “Compound Heterozygous Niemann-Pick Type C Disease in the Neonatal Period”. Journal of Contemporary Medicine 11 (5): 747-48. https://doi.org/10.16899/jcm.891827.
EndNote
Turan Ö, Anuk-ince D, Yilmaz Z, Ecevit A (September 1, 2021) Compound heterozygous Niemann-Pick Type C disease in the neonatal period. Journal of Contemporary Medicine 11 5 747–748.
IEEE
[1]Ö. Turan, D. Anuk-ince, Z. Yilmaz, and A. Ecevit, “Compound heterozygous Niemann-Pick Type C disease in the neonatal period”, J Contemp Med, vol. 11, no. 5, pp. 747–748, Sept. 2021, doi: 10.16899/jcm.891827.
ISNAD
Turan, Özden - Anuk-ince, Deniz - Yilmaz, Zerrin - Ecevit, Ayşe. “Compound Heterozygous Niemann-Pick Type C Disease in the Neonatal Period”. Journal of Contemporary Medicine 11/5 (September 1, 2021): 747-748. https://doi.org/10.16899/jcm.891827.
JAMA
1.Turan Ö, Anuk-ince D, Yilmaz Z, Ecevit A. Compound heterozygous Niemann-Pick Type C disease in the neonatal period. J Contemp Med. 2021;11:747–748.
MLA
Turan, Özden, et al. “Compound Heterozygous Niemann-Pick Type C Disease in the Neonatal Period”. Journal of Contemporary Medicine, vol. 11, no. 5, Sept. 2021, pp. 747-8, doi:10.16899/jcm.891827.
Vancouver
1.Özden Turan, Deniz Anuk-ince, Zerrin Yilmaz, Ayşe Ecevit. Compound heterozygous Niemann-Pick Type C disease in the neonatal period. J Contemp Med. 2021 Sep. 1;11(5):747-8. doi:10.16899/jcm.891827