Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Pgm1-cdg[original query] |
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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. The Journal of pediatrics 2016 May . Wong Sunnie Yan-Wai, Beamer Lesa J, Gadomski Therese, Honzik Tomas, Mohamed Miski, Wortmann Saskia B, Brocke Holmefjord Katja S, Mork Marit, Bowling Francis, Sykut-Cegielska Jolanta, Koch Dieter, Ackermann Amanda, Stanley Charles A, Rymen Daisy, Zeharia Avraham, Al-Sayed Moeen, Marquardt Thomas, Jaeken Jaak, Lefeber Dirk, Conrad Donald F, Kozicz Tamas, Morava E |
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population. Molecular genetics and metabolism reports 2021 Jun 27 100726. Lipi?ski Patryk, Bogda?ska Anna, Tylki-Szyma?ska An |
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