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Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing
A girl with early onset severe epilepsy, developmental delay, intellectual disability, visual maturation delays, and feeding problems was without a diagnosis despite an extensive genetic and metabolic evaluation. She initially manifested infantile spasms which responded to high-dose ACTH. Seizures s...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4486277/ https://ncbi.nlm.nih.gov/pubmed/25732998 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_416 |
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