Literature DB >> 5006141

Further electroretinographic studies of patients with mucopolysaccharidoses.

L S Leung, G W Weinstein, R R Hobson.   

Abstract

Electroretinographic studies were performed on many of the patients studied by Gills et al in 1965. An additional 13 patients with mucopolysaccharidoses were also studied. The ERG is normal in all patients with the Morquio syndrome (MPS IV), the Maroteaux-Lamy syndrome (MPS VI) and pseudo-Hurler polydystrophy. The ERG is abnormal in patients with the Hurler syndrome (MPS I), the Sanfilippo syndrome (MPS III) and the Scheie syndrome (MPS V). Some patients with the Hunter syndrome had normal ERGs while others had abnormal ERGs.

Entities:  

Mesh:

Year:  1971        PMID: 5006141

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  5 in total

Review 1.  Mucopolysaccharidosis VI.

Authors:  Vassili Valayannopoulos; Helen Nicely; Paul Harmatz; Sean Turbeville
Journal:  Orphanet J Rare Dis       Date:  2010-04-12       Impact factor: 4.123

2.  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

Review 3.  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

4.  Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B.

Authors:  Coy D Heldermon; Anne K Hennig; Kevin K Ohlemiller; Judith M Ogilvie; Erik D Herzog; Annalisa Breidenbach; Carole Vogler; David F Wozniak; Mark S Sands
Journal:  PLoS One       Date:  2007-08-22       Impact factor: 3.240

5.  Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.

Authors:  C D Heldermon; E Y Qin; K K Ohlemiller; E D Herzog; J R Brown; C Vogler; W Hou; J L Orrock; B E Crawford; M S Sands
Journal:  Gene Ther       Date:  2013-03-28       Impact factor: 5.250

  5 in total

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