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...

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Detalles Bibliográficos
Autores principales: Van Hees, Ines, Jaeken, Jaak, Meersseman, Wouter, Casteels, Ingele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: German Medical Science GMS Publishing House 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883380/
https://www.ncbi.nlm.nih.gov/pubmed/31803566
http://dx.doi.org/10.3205/oc000126

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