Concepedia

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Carla Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, M. F. Peralta, Nydia Beatriz Azar, Norma Spécola Spécola, Norberto Guelbert, Niels Suldrup Suldrup, Marcela Pereyra, Raquel Dodelson de Kremer

Pediatric Research · 2018 · 23 citations · 19 references

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19

Correction: Corrigendum: Ligand modified nanoparticles increases cell uptake, alters endocytosis and elevates glioma distribution and internalization

Huile Gao, Zhi Yang, Shuang Zhang et al. · Scientific Reports · 2014 · 1.1K citations · Full text

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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

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The Great Migration and African-American Genomic Diversity

Soheil Baharian, Maxime Barakatt, Christopher R. Gignoux et al. · PLoS Genetics · 2016 · 205 citations · Full text

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Improved HPLC Method for Carbohydrate-deficient Transferrin in Serum

Anders Helander, Asgeir Husa, Jan‐Olof Jeppsson · Clinical Chemistry · 2003 · 169 citations · Full text

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 163 citations

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