Sjögren-Larsson Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1191-1
Reference7 articles.
1. Cho KH, Shim SH, Jung Y, Sung SR, Kim M (2018) Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report. BMC Med Genet 19(1):152. https://doi.org/10.1186/s12881-018-0663-0
2. Fuijkschot J, Theelen T, Seyger MMB, van der Graaf M, de Groot IJM, Wevers RA, Wanders RJA, Waterham HR, Willemsen MAAP (2012) Sjögren-Larsson syndrome in clinical practice. J Inherit Metab Dis 35(6):955–962. https://doi.org/10.1007/s10545-012-9518-6
3. Rizzo WB, Carney G, Lin Z (1999) The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65(6):1547–1560. https://doi.org/10.1086/302681
4. Rizzo WB (2007) Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 90(1):1–9. https://doi.org/10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22. PMID: 16996289; PMCID: PMC1933507
5. Roy U, Das U, Pandit A, Debnath A (2016) Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system. BMJ Case Reports. https://doi.org/10.1136/bcr-2016-215110
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