Literature DB >> 24030340

Inner macular hyperreflectivity demonstrated by optical coherence tomography in niemann-pick disease.

Danielle S Rudich1, Christine A Curcio, Melissa Wasserstein, Scott E Brodie.   

Abstract

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Year:  2013        PMID： 24030340      PMCID： PMC3895486          DOI： 10.1001/jamaophthalmol.2013.2374

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  5 in total

1.  Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement.

Authors:  Cinoo Kim; Jinho Jeong; Hyeong Gon Yu
Journal:  J Inherit Metab Dis       Date:  2010-06-29       Impact factor: 4.982

2.  Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

Authors:  M M McGovern; A Aron; S E Brodie; R J Desnick; M P Wasserstein
Journal:  Neurology       Date:  2006-01-24       Impact factor: 9.910

3.  Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function.

Authors:  S Marathe; S R Miranda; C Devlin; A Johns; G Kuriakose; K J Williams; E H Schuchman; I Tabas
Journal:  Hum Mol Genet       Date:  2000-08-12       Impact factor: 6.150

4.  Ocular manifestations of Niemann-Pick disease type B.

Authors:  Margaret M McGovern; Melissa P Wasserstein; Alan Aron; Robert J Desnick; Edward H Schuchman; Scott E Brodie
Journal:  Ophthalmology       Date:  2004-07       Impact factor: 12.079

5.  Ocular manifestations of adult Niemann-Pick disease: a case report.

Authors:  D Lowe; F Martin; J Sarks
Journal:  Aust N Z J Ophthalmol       Date:  1986-02
  5 in total
  6 in total

1.  Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease.

Authors:  Selim Bolukbasi; Cezmi Dogan; Ertugrul Kiykim; Akin Cakir; Burak Erden; Alper Halil Bayat; Mustafa Nuri Elcioglu; Ayse Cigdem Aktuglu Zeybek
Journal:  Int Ophthalmol       Date:  2019-04-11       Impact factor: 2.031

Review 2.  Applications of optical coherence tomography in pediatric clinical neuroscience.

Authors:  Robert A Avery; Raneem D Rajjoub; Carmelina Trimboli-Heidler; Amy T Waldman
Journal:  Neuropediatrics       Date:  2015-03-24       Impact factor: 1.947

3.  Rod-Mediated Dark Adaptation and Macular Pigment Optical Density in Older Adults with Normal Maculas.

Authors:  Anna V Zarubina; Carrie E Huisingh; Mark E Clark; Kenneth R Sloan; Gerald McGwin; Jason N Crosson; Christine A Curcio; Cynthia Owsley
Journal:  Curr Eye Res       Date:  2018-05-01       Impact factor: 2.424

4.  Ocular signs correlate well with disease severity and genotype in Fabry disease.

Authors:  Susanne Pitz; Gisela Kalkum; Laila Arash; Nesrin Karabul; Andrea Sodi; Sylvain Larroque; Michael Beck; Andreas Gal
Journal:  PLoS One       Date:  2015-03-17       Impact factor: 3.240

Review 5.  Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

Authors:  Fatih Ezgu; Erkan Alpsoy; Zerrin Bicik Bahcebasi; Ozgur Kasapcopur; Melis Palamar; Huseyin Onay; Binnaz Handan Ozdemir; Mehmet Akif Topcuoglu; Omac Tufekcioglu
Journal:  Orphanet J Rare Dis       Date:  2022-03-02       Impact factor: 4.123

6.  Optical coherence tomography features in a case of Type I sialidosis.

Authors:  I-Hua Wang; Ting-Yu Lin; Shu-Ting Kao
Journal:  Taiwan J Ophthalmol       Date:  2017 Apr-Jun
  6 in total

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