A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome

Autor: Olgac A, Okur İ, Biberoğlu G, Ezgü FS, Tümer L

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 1, Pp 103-106 (2021)

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a r

Externí odkaz: https://doaj.org/article/520bfc7158984610bff713d9df79e5b1

New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.

Autor: Özsaydı Aktaşoğlu E; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Kılıç A; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Emecen Şanlı M; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., İnci A; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Aktaş E; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Akdulum İ; Department of Radiology, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Yaylı N; Department of Radiology, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Okur İ; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Ezgü FS; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye., Tümer L; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye.

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Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.

Autor: İnci A; Department of Paediatric Metabolism and Nutrition, Gazi University School of Medicine, Emniyet Street, Yenimahalle, Ankara, Turkey. aslid.inci@gmail.com., Ezgü FS; Department of Paediatric Metabolism and Nutrition, Gazi University School of Medicine, Emniyet Street, Yenimahalle, Ankara, Turkey.; Department of Paediatric Genetic, Gazi University School of Medicine, Ankara, Turkey., Tümer L; Department of Paediatric Metabolism and Nutrition, Gazi University School of Medicine, Emniyet Street, Yenimahalle, Ankara, Turkey.

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Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

Autor: Bakkaloğlu SA; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Büyükkaragöz B; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Pınarbaşı AS; Diyarbakır Children's Hospital, Pediatric Nephrology Unit, Diyarbakır, Turkey., Leventoğlu E; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Saygılı S; Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey., Çomak E; Department of Pediatric Nephrology, Akdeniz University, Antalya, Turkey., Yıldırım ZY; İstanbul Faculty of Medicine, Department of Pediatric Nephrology, Istanbul University, İstanbul, Turkey., Akıncı N; Department of Pediatric Nephrology, Şişli Etfal Research and Training Hospital, İstanbul, Turkey., Dursun İ; Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey., Karabay Bayazıt A; Department of Pediatric Nephrology, Çukurova University, Adana, Turkey., Kavaz Tufan A; Department of Pediatric Nephrology, Osmangazi University, Eskişehir, Turkey., Akman S; Department of Pediatric Nephrology, Akdeniz University, Antalya, Turkey., Yılmaz A; İstanbul Faculty of Medicine, Department of Pediatric Nephrology, Istanbul University, İstanbul, Turkey., Noyan A; Adana Hospital, Department of Pediatric Nephrology, Başkent University, Adana, Turkey., Ağbaş A; Department of Pediatric Nephrology, Haseki Research and Training Hospital, İstanbul, Turkey., Serdaroğlu E; Department of Pediatric Nephrology, Dr. Behçet Uz Children Hospital, İzmir, Turkey., Delibaş A; Department of Pediatric Nephrology, Mersin University, Mersin, Turkey., Elmacı AM; Pediatric Nephrology Unit, Konya Maternal and Children Hospital, Konya, Turkey., Taşdemir M; Department of Pediatric Nephrology, İstinye University, İstanbul, Turkey., Ezgü FS; Department of Pediatric Inborn Metabolic Disorders, Gazi University, Ankara, Turkey.; Department of Pediatric Genetic Disorders, Gazi University, Ankara, Turkey., Sever L; Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey.

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A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.

Autor: Yıldız Ç; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey., Gezgin Yıldırım D; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey., Inci A; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey., Tümer L; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey., Cengiz Ergin FB; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey., Sunar Yayla ENS; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey., Esmeray Şenol P; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey., Karaçayır N; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey., Eğritaş Gürkan Ö; Department of Pediatric Gastroenterology and Hepatology, Gazi University Faculty of Medicine, Ankara, Turkey., Okur I; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey., Ezgü FS; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey., Bakkaloğlu SA; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey. Electronic address: sevcan@gazi.edu.tr.

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