Depo Hastalıkları
Özet
Referanslar
Lieberman M, Peet A, Amanvermez R (ed), Avcı B (ed). Marks’ Tıbbı Biyokimyanın Esasları Klinik Yaklaşım: İstanbul: İstanbul Medikal Sağlık ve Yayıncılık Hiz. Tic. Ltd. Şti. 2017
Kanungo S, Wells K, Tribett T, Areeg EG. Glycogen metabolism and glycogen storage disorders. Ann Transl Med 2018; 6:474.
Weins DA, Steuerwald U, Se Souza CFM, Derks TGJ. Inborn Errrors of Metabolism with Hypoglycemia. Pediatr Clin N Am 2018; 65: 247-265.
Saudubray JM, Baumgartner MR, Garcia-Cazorla A, Walter JH Eds. Inborn Metabolic Diseases Diagnosis and Treatment. 7th Edition: Berlin, Heidelberg: Springer, 2022
Kamenets EA, Guısarova EA, Milovanova NV, Itkis YS, Strokova TV, Melikyan MA et al. Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants. JIMD Rep. 2020; 53:39-44.
Sharari S, Abou-Alloul M, Hussain K, Khan FA. Fanconi-Bickel Syndrome: A review of the mechanisms that lead to dysglycaemia. Int J Mol Sci. 2020; 21:6286.
Tümer L (ed). Lizozomal Hastalıkların Tanı ve Tedavisinde Yenilikler. Türkiye Klinikleri Çocuk Metabolizma Hastalıkları Özel Konular[online]. 2021[alıntı 24 Mayıs 2022]. Available from: https://dijitalakademi.turkiyeklinikleri.com
Hasanoğlu E, Düşünsel R, Bideci A. Temel Pediatri: Ankara: Güneş Tıp Kitabevleri Ltd. Şti. 2010
Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New expanded classification emphasizing neurological features. Iran J Child Neurol. 2019; 13:7-24.
Sitarska D, Tylki-Symanska, Lugowska A. Treatment trials in Niemann-Pick C disease. Metab Brain Dis. 2021; 36:2215-2221.
Tirelli C, Rondinone O, Italia M, Mira S, Belmonte LA, De Grassi M et al. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. Biomolecules. 2024; 14:211.
Vaisbich MH, Andrade LGM, Silva CAB, Barreto FC. Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN). J Bras Nefrol. 2022; 4:268-280.
Pieroni M, Namdar M, Olivotto I, Desnick RJ. Anderson-Fabry disease management: role of the cardiologist. Eur Heart J. 2024; 45:1395-1409.
Referanslar
Lieberman M, Peet A, Amanvermez R (ed), Avcı B (ed). Marks’ Tıbbı Biyokimyanın Esasları Klinik Yaklaşım: İstanbul: İstanbul Medikal Sağlık ve Yayıncılık Hiz. Tic. Ltd. Şti. 2017
Kanungo S, Wells K, Tribett T, Areeg EG. Glycogen metabolism and glycogen storage disorders. Ann Transl Med 2018; 6:474.
Weins DA, Steuerwald U, Se Souza CFM, Derks TGJ. Inborn Errrors of Metabolism with Hypoglycemia. Pediatr Clin N Am 2018; 65: 247-265.
Saudubray JM, Baumgartner MR, Garcia-Cazorla A, Walter JH Eds. Inborn Metabolic Diseases Diagnosis and Treatment. 7th Edition: Berlin, Heidelberg: Springer, 2022
Kamenets EA, Guısarova EA, Milovanova NV, Itkis YS, Strokova TV, Melikyan MA et al. Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants. JIMD Rep. 2020; 53:39-44.
Sharari S, Abou-Alloul M, Hussain K, Khan FA. Fanconi-Bickel Syndrome: A review of the mechanisms that lead to dysglycaemia. Int J Mol Sci. 2020; 21:6286.
Tümer L (ed). Lizozomal Hastalıkların Tanı ve Tedavisinde Yenilikler. Türkiye Klinikleri Çocuk Metabolizma Hastalıkları Özel Konular[online]. 2021[alıntı 24 Mayıs 2022]. Available from: https://dijitalakademi.turkiyeklinikleri.com
Hasanoğlu E, Düşünsel R, Bideci A. Temel Pediatri: Ankara: Güneş Tıp Kitabevleri Ltd. Şti. 2010
Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New expanded classification emphasizing neurological features. Iran J Child Neurol. 2019; 13:7-24.
Sitarska D, Tylki-Symanska, Lugowska A. Treatment trials in Niemann-Pick C disease. Metab Brain Dis. 2021; 36:2215-2221.
Tirelli C, Rondinone O, Italia M, Mira S, Belmonte LA, De Grassi M et al. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. Biomolecules. 2024; 14:211.
Vaisbich MH, Andrade LGM, Silva CAB, Barreto FC. Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN). J Bras Nefrol. 2022; 4:268-280.
Pieroni M, Namdar M, Olivotto I, Desnick RJ. Anderson-Fabry disease management: role of the cardiologist. Eur Heart J. 2024; 45:1395-1409.
