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Ophthalmic Genetics Volume 40, 2019 - Issue 4
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Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype

Samiksha Fouzdar-JainDepartment of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA;Children’s Hospital & Medical Center, Omaha, NE, USA;Department of Ophthalmology and Visual Science, Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USA
,
Donny W SuhDepartment of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA;Children’s Hospital & Medical Center, Omaha, NE, USA;Department of Ophthalmology and Visual Science, Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USA
&
William B RizzoDepartment of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USACorrespondence[email protected]
Pages 298-308 | Received 02 May 2019, Accepted 22 Aug 2019, Published online: 12 Sep 2019

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Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu & Wojciech Kozubski. (2021) Genetic diseases mimicking multiple sclerosis. Postgraduate Medicine 133:7, pages 728-749.
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Shaza N. Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, Donny W. Suh & William B. Rizzo. (2020) Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. Ophthalmic Genetics 41:4, pages 381-385.
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Articles from other publishers (13)

Burak Mugdat Karan, Karis Little, Josy Augustine, Alan W. Stitt & Tim M. Curtis. (2023) Aldehyde Dehydrogenase and Aldo-Keto Reductase Enzymes: Basic Concepts and Emerging Roles in Diabetic Retinopathy. Antioxidants 12:7, pages 1466.
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Hongying Daisy Dai, Fang Qiu, Kimberly Jackson, Marcus Fruttiger & William B. Rizzo. (2023) Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways. Metabolites 13:6, pages 682.
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Ngan Tran Anh Le, Hieu Le Trung Nguyen, Binh Ngo Trinh & Hung Hoang Dang. (2022) Sjögren–Larsson syndrome caused by novel mutations in ALDH3A2 gene . International Journal of Dermatology 62:1.
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Gunay Yolcu, Leyla Huseynli, Ozge Kenis-Coskun & Evrim Karadag-Saygi. (2022) Small touches to big walks –the impact of rehabilitation on Sjögren-Larsson syndrome: A case report. Journal of Pediatric Rehabilitation Medicine 15:3, pages 533-537.
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Hajrah Sarkar & Mariya Moosajee. (2022) Choroideremia: molecular mechanisms and therapies. Trends in Molecular Medicine 28:5, pages 378-387.
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Neelam Pawar, R Meenakshi, Devendra Maheshwari, A Fathima, Sabyasachi Chakrabarty & Mihir Paranjape. (2022) Beyond retina in Sjogren–Larsson syndrome. Indian Journal of Ophthalmology 70:7, pages 2727.
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Lester H. Lambert, Noreen Shaikh, Jeffrey L. Marx & David J. Ramsey. (2022) End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature. Therapeutic Advances in Rare Disease 3, pages 263300402211224.
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Vinzenz Oji. 2022. Braun-Falco´s Dermatology. Braun-Falco´s Dermatology 1047 1072 .
Christos P. Panteliadis. 2022. Neurocutaneous Disorders. Neurocutaneous Disorders 451 457 .
Dulce Lima Cunha, Rose Richardson, Dhani Tracey-White, Alessandro Abbouda, Andreas Mitsios, Verena Horneffer-van der Sluis, Panteleimon Takis, Nicholas Owen, Jane Skinner, Ailsa A. Welch & Mariya Moosajee. (2021) REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. JCI Insight 6:9.
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Vinzenz Oji. 2020. Braun-Falco´s Dermatology. Braun-Falco´s Dermatology 1 27 .
Marcellene H. Franzen, Michelle M. LeRiger, Kaitlyn P. Pellegrino, Jane A. Kugler & William B. Rizzo. (2020) Sjögren‐Larsson syndrome: Anesthetic considerations and practical recommendations. Pediatric Anesthesia 30:12, pages 1390-1395.
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James E. Davison. (2020) Eye involvement in inherited metabolic disorders. Therapeutic Advances in Ophthalmology 12, pages 251584142097910.
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