Cited In for PMID: 20049467

Year	Number of Results
2010	1
2011	2
2012	2
2013	2
2014	2
2015	2
2016	1
2017	2
2018	3
2019	2
2020	3
2023	2
2024	0

1

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Rizzo WB, et al. Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y. Epub 2010 Jan 5. Arch Dermatol Res. 2010. PMID: 20049467 Free PMC article.

2

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

Dai HD, Qiu F, Jackson K, Fruttiger M, Rizzo WB. Dai HD, et al. Metabolites. 2023 May 23;13(6):682. doi: 10.3390/metabo13060682. Metabolites. 2023. PMID: 37367841 Free PMC article.

3

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

J SK, Waheed MD, Batool S, Holder SS, Rodriguez Reyes Y, Guntha M. J SK, et al. Cureus. 2023 Feb 18;15(2):e35159. doi: 10.7759/cureus.35159. eCollection 2023 Feb. Cureus. 2023. PMID: 36950004 Free PMC article.

4

Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.

Franzen MH, LeRiger MM, Pellegrino KP, Kugler JA, Rizzo WB. Franzen MH, et al. Paediatr Anaesth. 2020 Dec;30(12):1390-1395. doi: 10.1111/pan.14034. Epub 2020 Oct 26. Paediatr Anaesth. 2020. PMID: 33037729 Free PMC article.

5

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.

S'aulis D, Khoury EA, Zabel M, Rizzo WB. S'aulis D, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):253-258. doi: 10.1016/j.ymgme.2020.08.002. Epub 2020 Aug 12. Mol Genet Metab. 2020. PMID: 32800643 Free PMC article.

6

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP. Staps P, et al. J Inherit Metab Dis. 2020 Nov;43(6):1265-1278. doi: 10.1002/jimd.12275. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557630 Free PMC article.

7

Exophilin-5 Supports Lysosome-Mediated Trafficking Required for Epidermal Differentiation.

Monteleon CL, Lee IY, Ridky TW. Monteleon CL, et al. J Invest Dermatol. 2019 Oct;139(10):2219-2222.e6. doi: 10.1016/j.jid.2019.04.014. Epub 2019 May 11. J Invest Dermatol. 2019. PMID: 31082377 Free PMC article. No abstract available.

8

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.

9

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.

Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, Uchida Y, Park K, Craiglow B, Choate KA, Shin KO, Lee YM, Grove GL, Wakefield JS, Khnykin D, Elias PM. Mauldin EA, et al. Am J Pathol. 2018 Jun;188(6):1419-1429. doi: 10.1016/j.ajpath.2018.02.008. Epub 2018 Mar 13. Am J Pathol. 2018. PMID: 29548991 Free PMC article.

10

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome.

Taghdiri M, Kashef A, Fardaei M, Miryounesi M. Taghdiri M, et al. Clin Case Rep. 2017 Nov 22;6(1):32-36. doi: 10.1002/ccr3.1235. eCollection 2018 Jan. Clin Case Rep. 2017. PMID: 29375833 Free PMC article.

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