The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high pressure liquid chromatography (Tf-HPLC) method an...

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Detalles Bibliográficos

Autores principales:	Ozgen Ozge, Güdek Kılıç Fatma, Gedikbaşı Asuman, Balcı Mehmet Cihan, Karaca Meryem, Durmuş Aslı, Tutu Belkıs, Körbeyli Hüseyin Kutay, Atalar Fatmahan, Gökçay Gülden Fatma
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	De Gruyter 2024-11-01
Colección:	Türk Biyokimya Dergisi
Materias:	congenital disorders of glycosylation (cdg) serum transferrin inborn errors of metabolism n-glycosylation hplc diagnosis
Acceso en línea:	https://doi.org/10.1515/tjb-2024-0011
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