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Your search keyword '"ALG12-CDG"' showing total 13 results

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13 results on '"ALG12-CDG"'

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1. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum.

2. ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

3. ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

4. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.

5. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

6. Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells

7. ALG12-CDG: novel glycophenotype insights endorse the molecular defect

8. [Untitled]

9. NOVEL GLYCOSYLATION INSIGHTS IN ALG12-CDG

10. Combined mass spectrometry methods for serum N-glycoprotein profiling enhance the awareness of the molecular patho-mechanism in ALG12-CDG

11. Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells

12. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

13. Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells.

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