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Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years
Aims: To describe the evolution of ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG). Methods: A clinical ophthalmological examination with visual acuity measurement, fundoscopy and flash electroretinogram (fERG) was perfor...
में बचाया:
| में प्रकाशित: | GMS Ophthalmol Cases |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
German Medical Science GMS Publishing House
2019
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6883380/ https://ncbi.nlm.nih.gov/pubmed/31803566 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3205/oc000126 |
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