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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Genet Metab Rep
मुख्य लेखकों: Lipiński, Patryk, Bogdańska, Anna, Tylki-Szymańska, Anna
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2021
विषय:
ऑनलाइन पहुंच: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
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