Загрузка...

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

INTRODUCTION: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 – 30th October 2020). MATERIAL AND...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Mol Genet Metab Rep
Главные авторы: Lipiński, Patryk, Bogdańska, Anna, Tylki-Szymańska, Anna
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2021
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7892981/
https://ncbi.nlm.nih.gov/pubmed/33643843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100726
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!