Literature DB >> 4954407

Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses.

J P Gills, R Hobson, W B Hanley, V A McKusick.   

Abstract

Entities:  

Mesh：

Year:  1965        PMID： 4954407     DOI： 10.1001/archopht.1965.00970040598003

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  13 in total

1.  Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Authors:  H J Kim; N G Beratis; P Brill; E Raab; K Hirschhorn; R Matalon
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

2.  Papilloedema in association with Hunter's syndrome.

Authors:  M Beck
Journal:  Br J Ophthalmol       Date:  1983-03       Impact factor: 4.638

3.  Severe visual impairment in Swedish children.

Authors:  E Lindstedt
Journal:  Doc Ophthalmol       Date:  1972-04-15       Impact factor: 2.379

4.  X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

Authors:  A E Krill
Journal:  Trans Am Ophthalmol Soc       Date:  1969

Review 5.  Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.

Authors:  S Al Sawaf; E Mayatepek; B Hoffmann
Journal:  J Inherit Metab Dis       Date:  2008-07-13       Impact factor: 4.982

6.  Pigment epithelial pattern dystrophy: a peripheral type.

Authors:  J W Delleman; P T de Jong
Journal:  Br J Ophthalmol       Date:  1985-10       Impact factor: 4.638

7.  Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.

Authors:  Augusto Magalhães; Ana Maria Cunha; Rodrigo Vilares-Morgado; Elisa Leão-Teles; Esmeralda Rodrigues; Manuel Falcão; Ângela Carneiro; Jorge Breda; Fernando Falcão-Reis
Journal:  Case Rep Ophthalmol Med       Date:  2021-04-12

Review 8.  Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Authors:  Christian J Hendriksz; Maisoon Al-Jawad; Kenneth I Berger; Sara M Hawley; Rebecca Lawrence; Ciarán Mc Ardle; C Gail Summers; Elizabeth Wright; Elizabeth Braunlin
Journal:  J Inherit Metab Dis       Date:  2012-02-23       Impact factor: 4.982

9.  Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Authors:  Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymańska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith
Journal:  Orphanet J Rare Dis       Date:  2011-11-07       Impact factor: 4.123

10.  Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes.

Authors:  D Tzetzi; R Hamilton; P H Robinson; G N Dutton
Journal:  Doc Ophthalmol       Date:  2007-02-16       Impact factor: 1.854
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