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ALG11-CDG syndrome: expanding the phenotype
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literatu...
Shranjeno v:
| izdano v: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6426632/ https://ncbi.nlm.nih.gov/pubmed/30676690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61046 |
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