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Select item 105503491.

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software

José Thiago de Souza de Castro, Camilo Lotfi Saab, Mariam Patrícia Auada Souto, Juliane Giselle Ortolam, Carlos Eduardo Steiner, Thiago Junqueira Ribeiro de Rezende, Fabiano Reis

Arq Neuropsiquiatr. 2023 Sep; 81(9): 809–815. Published online 2023 Oct 4. doi: 10.1055/s-0043-1772601

PMCID:: PMC10550349

Article PDF–1.5M

Select item 103010672.

Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

Hongying Daisy Dai, Fang Qiu, Kimberly Jackson, Marcus Fruttiger, William B. Rizzo

Metabolites. 2023 Jun; 13(6): 682. Published online 2023 May 23. doi: 10.3390/metabo13060682

PMCID:: PMC10301067

Article PDF–1.1M

Select item 100324633.

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature

Lester H. Lambert, Noreen Shaikh, Jeffrey L. Marx, David J. Ramsey

Ther Adv Rare Dis. 2022 Jan-Dec; 3: 26330040221122496. Published online 2022 Sep 9. doi: 10.1177/26330040221122496

PMCID:: PMC10032463

Article PDF–1021K

Select item 100283084.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay

Srilakshmi K J, Muhammad Daniyal Waheed, Saima Batool, Shaniah S Holder, Yadelys Rodriguez Reyes, Manisha Guntha

Cureus. 2023 Feb; 15(2): e35159. Published online 2023 Feb 18. doi: 10.7759/cureus.35159

PMCID:: PMC10028308

Article PDF–631K

Select item 91494705.

Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy

Pippa Staps, Anita de Breuk, Johannes R.M. Cruysberg, Michèl Willemsen, Thomas Theelen

Case Rep Ophthalmol. 2022 May-Aug; 13(2): 341–349. Published online 2022 May 2. doi: 10.1159/000524591

PMCID:: PMC9149470

Article PDF–1.1M

Select item 89160016.

Sjögren-Larsson Syndrome: Anesthetic Considerations and Practical Recommendations

Marcellene H. Franzen, Michelle M. LeRiger, Jane A. Kugler, Kaitlyn P. Pellegrino, William B. Rizzo

Paediatr Anaesth. Author manuscript; available in PMC 2022 Mar 11.

Published in final edited form as: Paediatr Anaesth. 2020 Dec; 30(12): 1390–1395. Published online 2020 Oct 26. doi: 10.1111/pan.14034

PMCID:: PMC8916001

Article PDF–1.0M

Select item 88569157.

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

William B. Rizzo, Dana S'aulis, Elizabeth Dorwart, Zachary Bailey

Mol Genet Metab Rep. 2022 Mar; 30: 100839. Published online 2021 Dec 23. doi: 10.1016/j.ymgmr.2021.100839

PMCID:: PMC8856915

Article PDF–2.1M

Select item 84624578.

Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome

Koki Nojiri, Shuhei Fudetani, Ayami Arai, Takuya Kitamura, Takayuki Sassa, Akio Kihara

Mol Cell Biol. 2021 Oct; 41(10): e00352-21. Prepublished online 2021 Aug 9. Published online 2021 Sep 24. doi: 10.1128/MCB.00352-21

PMCID:: PMC8462457

Article PDF–3.4M

Select item 84582379.

A Neurodegenerative Phenotype Associated with Sjögren-Larsson Syndrome

Simone Warrack, Terri Love, William B. Rizzo

J Child Neurol. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: J Child Neurol. 2021 Oct; 36(11): 1011–1016. Published online 2021 Jul 28. doi: 10.1177/08830738211029390

PMCID:: PMC8458237

Article PDF–280K

Select item 833813310.

MR of the brain in Sjögren-Larsson syndrome.

F Van Mieghem, J W Van Goethem, P M Parizel, L van den Hauwe, P Cras, J De Meirleire, A M De Schepper

AJNR Am J Neuroradiol. 1997 Sep; 18(8): 1561-3.

PMCID:: PMC8338133

Summary PDF–599K

Select item 797559811.

MR Imaging and Proton MR Spectroscopic Studies in Sjögren-Larsson Syndrome: Characterization of the Leukoencephalopathy

Michèl A. A. P. Willemsen, Marinette van der Graaf, Marjo S. van der Knaap, Arend Heerschap, Peter H. M. F. van Domburg, Fons J. M. Gabreëls, Jan J. Rotteveel

AJNR Am J Neuroradiol. 2004 Apr; 25(4): 649–657.

PMCID:: PMC7975598

Article PDF–298K

Select item 774906312.

1-O-Alkylglycerol Accumulation Reveals Abnormal Ether Glycerolipid Metabolism in Sjögren-Larsson Syndrome

Dana S’aulis, Emily A. Khoury, Morgan Zabel, William B. Rizzo

Mol Genet Metab. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Mol Genet Metab. 2020 Sep-Oct; 131(1-2): 253–258. Published online 2020 Aug 12. doi: 10.1016/j.ymgme.2020.08.002

PMCID:: PMC7749063

Article PDF–231K

Select item 768972613.

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Pippa Staps, William B. Rizzo, Frédéric M. Vaz, Marianna Bugiani, Martin Giera, Bram Heijs, Antoine H. C. van Kampen, Mia L. Pras‐Raves, Marjolein Breur, Annemieke Groen, Sacha Ferdinandusse, Marinette van der Graaf, Gert Van Goethem, Martin Lammens, Ron A. Wevers, Michèl A. A. P. Willemsen

J Inherit Metab Dis. 2020 Nov; 43(6): 1265–1278. Published online 2020 Jul 9. doi: 10.1002/jimd.12275

PMCID:: PMC7689726

Article PDF–5.5M

Select item 766732214.

Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation

Kamel T. Abidi, Naglaa M. Kamal, Ayman A. Bakkar A., Maram Alotaibi, Haifa Asseri, Kawthar A. Bokari

Mol Genet Genomic Med. 2020 Nov; 8(11): e1487. Published online 2020 Sep 15. doi: 10.1002/mgg3.1487

PMCID:: PMC7667322

Article PDF–890K

Select item 742577615.

Macular Crystalline Inclusions in Sjögren-Larsson Syndrome are Dynamic Structures that Undergo Remodeling

Shaza N. Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, Donny W. Suh, William B. Rizzo

Ophthalmic Genet. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Ophthalmic Genet. 2020 Aug; 41(4): 381–385. Published online 2020 Jun 8. doi: 10.1080/13816810.2020.1776340

PMCID:: PMC7425776

Article PDF–1.1M

Select item 720365316.

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

Pippa Staps, Judith van Gaalen, Peter. van Domburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom den Heijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen

JIMD Rep. 2020 May; 53(1): 61–70. Published online 2020 Mar 25. doi: 10.1002/jmd2.12099