Konjenital Glikozilasyon Bozuklukları ve Görüntüleme Bulguları

Özet

Referanslar

Jaeken J, Matthijs G. Congenital disorders of glycosilation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet. 2007;8:261-278.

Jaeken J, Morava E. Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism. In: Saudubray JM, Baumgartner MR, Garcia-Cazorla A, Walter JH (eds). Inborn Metabolic Diseases: Diagnosis and Treatment, 7th ed, Berlin, Heidelberg: Springer, 2022:811-833.

Jaak Jaeken and Lambert van den Heuvel. Congenital Disorders of Glycosylation. In: Blau N, Dionisi-Vici C, Ferreira CR, Vianey-Saban C, van Karnebeek C.D.M. (eds). Physician’s Guide tothe Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Second ed, Switzerland: Springer Nature, 2022:1333-1397.

McGovern MM and Desnick RJ. Disorders of Glycoprotein Degradation and Structure. In: Kliegman RM, Stanton BF, Schor NF, St Geme JW, Behrman RE (eds). Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier, 2016:734-737.

Turgay Coşkun. Konjenital Glikozilasyon Bozuklukları. In: Enver Hasanoğlu, Ruhan Düşünsel, Aysun Bideci (eds). Temel Pediatri, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2010:582-587.

Turgay Coşkun. Konjenital Glikozilasyon Bozuklukları. In: Turgay Coşkun, Murat Yurdakök (eds). Yenidoğanda Kalıtsal Metabolik Hastalıklar, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2014:135-157.

Halil İbrahim Aydın. Konjenital Glikozilasyon Bozuklukları. In: Murat Yurdakök (ed). Yurdakök Pediatri, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2018:181-215.

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29 Nisan 2025

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