Clinical research in families with inherited retinal degeneration
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- 2019
-
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Meinert, Monika LU ; Englund, Elisabet LU
;
Hedberg-Oldfors, Carola
;
Oldfors, Anders
;
Kornhall, Björn
LU
;
Lundin, Catarina
LU
and
Wittström, Elisabeth
LU
(2019)
In Ophthalmic Genetics
40(3).
p.227-236
Mark
- Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
- A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
- New modifications of Swedish ROP guidelines based on 10-year data from the SWEDROP register
- 2018
- Electrophysiology - when nothing is seen
- 2017
- The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
- Ataxia-pancytopenia syndrome with SAMD9L mutations
- Reduction of rod and cone function in 6.5-year-old children born extremely preterm
- Central retinal vein occlusion in younger Swedish adults : Case reports and review of the literature
- Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome