194 related articles for article (PubMed ID: 21531120)
21. A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.
Aoki N; Suzuki H; Ito K; Ito M
J Invest Dermatol; 2000 May; 114(5):1065-6. PubMed ID: 10792573
[No Abstract] [Full Text] [Related]
22. Interlamellar lipid differences between normal and psoriatic stratum corneum.
Motta S; Sesana S; Monti M; Giuliani A; Caputo R
Acta Derm Venereol Suppl (Stockh); 1994; 186():131-2. PubMed ID: 8073812
[TBL] [Abstract][Full Text] [Related]
23. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A; Anton-Lamprecht I; Braun-Quentin C; Kraus CS; Sayli BS; Ayuso C; Jagell S; Küster W; Wadelius C
Hum Mutat; 1998; 12(6):377-84. PubMed ID: 9829906
[TBL] [Abstract][Full Text] [Related]
24. Sjögren-larsson syndrome and crystalline maculopathy associated with a novel mutation.
Jean-François E; Low JY; Gonzales CR; Sarraf D
Arch Ophthalmol; 2007 Nov; 125(11):1582-3. PubMed ID: 17998529
[No Abstract] [Full Text] [Related]
25. Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.
Arai A; Takeichi T; Wakamoto H; Sassa T; Ito Y; Murase Y; Ogi T; Akiyama M; Kihara A
J Dermatol Sci; 2022 Sep; 107(3):114-122. PubMed ID: 35973883
[TBL] [Abstract][Full Text] [Related]
26. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Willemsen MA; IJlst L; Steijlen PM; Rotteveel JJ; de Jong JG; van Domburg PH; Mayatepek E; Gabreëls FJ; Wanders RJ
Brain; 2001 Jul; 124(Pt 7):1426-37. PubMed ID: 11408337
[TBL] [Abstract][Full Text] [Related]
27. Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
Auada MP; Taube MB; Collares EF; Tanaka AM; Cintra ML
Eur J Dermatol; 2002; 12(3):263-6. PubMed ID: 11978568
[TBL] [Abstract][Full Text] [Related]
28. Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C; Rigal M; Vaurs-Barrière C; Dorboz I; Eymard-Pierre E; Combes P; Giraud G; Wanders RJ; Afenjar A; Francannet C; Boespflug-Tanguy O
J Neurol Sci; 2012 Jan; 312(1-2):123-6. PubMed ID: 21872273
[TBL] [Abstract][Full Text] [Related]
29. Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.
Carney G; Wei S; Rizzo WB
Hum Mutat; 2004 Aug; 24(2):186. PubMed ID: 15241804
[TBL] [Abstract][Full Text] [Related]
30. Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
Davis K; Holden KR; S'Aulis D; Amador C; Matheus MG; Rizzo WB
J Child Neurol; 2013 Oct; 28(10):1259-65. PubMed ID: 23034980
[TBL] [Abstract][Full Text] [Related]
31. Compound heterozygous mutations in the
Liu YD; Lin HJ; Li CY; Sun GF; Hu XB; Ma MY; Sun Y; Feng BZ; Li QB; Kong QX
Int J Neurosci; 2020 Nov; 130(11):1156-1160. PubMed ID: 31944864
[No Abstract] [Full Text] [Related]
32. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
De Laurenzi V; Rogers GR; Hamrock DJ; Marekov LN; Steinert PM; Compton JG; Markova N; Rizzo WB
Nat Genet; 1996 Jan; 12(1):52-7. PubMed ID: 8528251
[TBL] [Abstract][Full Text] [Related]
33. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
Sanders RJ; Ofman R; Dekker C; Kemp S; Wanders RJ
J Chromatogr B Analyt Technol Biomed Life Sci; 2009 Feb; 877(4):451-5. PubMed ID: 19124283
[TBL] [Abstract][Full Text] [Related]
34. Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M; Eidelpes R; Schmuth M; Rizzo WB; Zschocke J; Keller MA
Hum Mutat; 2019 Feb; 40(2):177-186. PubMed ID: 30372562
[TBL] [Abstract][Full Text] [Related]
35. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome.
Shibaki A; Akiyama M; Shimizu H
J Invest Dermatol; 2004 Dec; 123(6):1197-9. PubMed ID: 15610535
[No Abstract] [Full Text] [Related]
36. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Rizzo WB; Craft DA; Somer T; Carney G; Trafrova J; Simon M
J Lipid Res; 2008 Feb; 49(2):410-9. PubMed ID: 17971613
[TBL] [Abstract][Full Text] [Related]
37. Incomplete Sjögren-Larsson syndrome in two Japanese siblings?
Willemsen MA; Rotteveel JJ; Steijlen PM; Wanders RJ
Dermatology; 1999; 199(2):187-8. PubMed ID: 10559596
[No Abstract] [Full Text] [Related]
38. Lipid composition of the superficial stratum corneum cells of pig epidermis.
Gray GM; White RJ; Williams RH; Yardley HJ
Br J Dermatol; 1982 Jan; 106(1):59-63. PubMed ID: 7059505
[TBL] [Abstract][Full Text] [Related]
39. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH; Shim SH; Kim M
Clin Genet; 2018 Apr; 93(4):721-730. PubMed ID: 28543186
[TBL] [Abstract][Full Text] [Related]
40. Impaired Skin Barrier Function Due to Reduced ω-
Nojiri K; Fudetani S; Arai A; Kitamura T; Sassa T; Kihara A
Mol Cell Biol; 2021 Sep; 41(10):e0035221. PubMed ID: 34370553
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]