-
1
-
-
22144493352
-
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenese gene (ALDH3A2)
-
Rizzo W.B., Carney G. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenese gene (ALDH3A2). Hum Mutant 2005, 26:1-10.
-
(2005)
Hum Mutant
, vol.26
, pp. 1-10
-
-
Rizzo, W.B.1
Carney, G.2
-
2
-
-
0034068122
-
A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome
-
Aoki N., Suzuki H., Ito K., Ito M. A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. J Invest Dermatol 2000, 114:1065-1066.
-
(2000)
J Invest Dermatol
, vol.114
, pp. 1065-1066
-
-
Aoki, N.1
Suzuki, H.2
Ito, K.3
Ito, M.4
-
3
-
-
9744242042
-
Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome
-
Shitake A., Akiyama M., Shimizu H. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 2004, 123:1197-1199.
-
(2004)
J Invest Dermatol
, vol.123
, pp. 1197-1199
-
-
Shitake, A.1
Akiyama, M.2
Shimizu, H.3
-
4
-
-
33750050869
-
Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome
-
Sakai K., Akiyama M., Watanabe T., Sanayama K., Sugita K., Takahashi M., et al. Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome. J Invest Dermatol 2006, 126:2545-2547.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 2545-2547
-
-
Sakai, K.1
Akiyama, M.2
Watanabe, T.3
Sanayama, K.4
Sugita, K.5
Takahashi, M.6
-
5
-
-
0008653289
-
Barrier characteristics of different human skin types investigated with X-ray diffraction, lipid analysis, and electron microscopy imaging
-
Schreiner V., Gooris G.S., Pfeiffer S., Lanzendörfer G., Wenck H.W., Diembeck W., et al. Barrier characteristics of different human skin types investigated with X-ray diffraction, lipid analysis, and electron microscopy imaging. J Invest Dermatol 2000, 114:654-660.
-
(2000)
J Invest Dermatol
, vol.114
, pp. 654-660
-
-
Schreiner, V.1
Gooris, G.S.2
Pfeiffer, S.3
Lanzendörfer, G.4
Wenck, H.W.5
Diembeck, W.6
-
6
-
-
77956877504
-
Neutral lipid storage leads to acylceramide deficiency, likely cobtributing to the pathogenesis of Dorfman-Chanarin syndrome
-
Uhida Y., Cho Y., Moravian S., Kim J., Nakajima K., Crumbing D., et al. Neutral lipid storage leads to acylceramide deficiency, likely cobtributing to the pathogenesis of Dorfman-Chanarin syndrome. J Invest Dermatol 2010, 130:2497-2499.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 2497-2499
-
-
Uhida, Y.1
Cho, Y.2
Moravian, S.3
Kim, J.4
Nakajima, K.5
Crumbing, D.6
-
7
-
-
77955551313
-
Ichthyoisis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion
-
Rizzo W.B., S'Aulis D., Jennings M.A., Crumbing D.A., Williams M.L., Elias P.M. Ichthyoisis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res 2010, 302:443-451.
-
(2010)
Arch Dermatol Res
, vol.302
, pp. 443-451
-
-
Rizzo, W.B.1
S'Aulis, D.2
Jennings, M.A.3
Crumbing, D.A.4
Williams, M.L.5
Elias, P.M.6
-
8
-
-
44949151890
-
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism
-
Elias P.M., Williams M.L., Holleran W.M., Jiang Y.J., Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008, 49:694-714.
-
(2008)
J Lipid Res
, vol.49
, pp. 694-714
-
-
Elias, P.M.1
Williams, M.L.2
Holleran, W.M.3
Jiang, Y.J.4
Schmuth, M.5
-
9
-
-
38949128718
-
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome
-
Rizzo W.B., Craft D.A., Somer T., Carney G., Trafrova J., Simon M. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. J Lipid Res 2008, 49:410-419.
-
(2008)
J Lipid Res
, vol.49
, pp. 410-419
-
-
Rizzo, W.B.1
Craft, D.A.2
Somer, T.3
Carney, G.4
Trafrova, J.5
Simon, M.6
-
10
-
-
0028100996
-
Quantification of stratum corneum ceramides and lipid envelop ceramides in the hereditary ichthyoses
-
Paige D.G., Morse-Fisher N., Harper J.I. Quantification of stratum corneum ceramides and lipid envelop ceramides in the hereditary ichthyoses. Br J Dermatol 1994, 131:23-27.
-
(1994)
Br J Dermatol
, vol.131
, pp. 23-27
-
-
Paige, D.G.1
Morse-Fisher, N.2
Harper, J.I.3
|