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Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo, Omar A; Khan, Kamron N; Wright, Genevieve; Ockrim, Zoe; Scalco, Renata S; Robson, Anthony G; Tufail, Adnan; Michaelides, Michel; Quinlivan, Ros; Webster, Andrew R.
Affiliation
  • Mahroo OA; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK; Department of Ophthalmology, King's College London, St Thomas' Hospital Campus, London, UK. Electronic address: o.mahroo@ucl.ac.uk.
  • Khan KN; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK.
  • Wright G; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
  • Ockrim Z; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
  • Scalco RS; MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK.
  • Robson AG; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
  • Tufail A; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
  • Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
  • Quinlivan R; MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK.
  • Webster AR; UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.
Ophthalmology ; 126(2): 320-322, 2019 02.
Article in En | MEDLINE | ID: mdl-30316539
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / DNA / Glycogen Storage Disease Type V / Peripherins / Mutation Type of study: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limits: Humans / Male / Middle aged Language: En Journal: Ophthalmology Year: 2019 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / DNA / Glycogen Storage Disease Type V / Peripherins / Mutation Type of study: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limits: Humans / Male / Middle aged Language: En Journal: Ophthalmology Year: 2019 Type: Article