Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Congenital Disorders of Glycosylation and PMM2[original query] |
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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. JIMD reports 2017 Jul . Vals Mari-Anne, Pajusalu Sander, Kals Mart, Mägi Reedik, Õunap Katr |
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. Pediatric research 2018 11 84 (6): 837-841. Asteggiano Carla Gabriela, Papazoglu Magali, Bistué Millón María Beatriz, Peralta María Fernanda, Azar Nydia Beatriz, Spécola Norma Spécola, Guelbert Norberto, Suldrup Niels Suldrup, Pereyra Marcela, Dodelson de Kremer Raqu |
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. Frontiers in genetics 2021 8 12 719437. Pajusalu Sander, Vals Mari-Anne, Mihkla Laura, Šamarina Ustina, Kahre Tiina, Õunap Katr |
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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