-
1
-
-
0023616073
-
Dorfman-Chanarin syndrome
-
Srebrnik A, Tu E, Perluk C, Elman M, Messer G, Ilie B, Krakowski A: Dorfman-Chanarin syndrome. J Am Acad Dermatol 1987;17:801-808.
-
(1987)
J Am Acad Dermatol
, vol.17
, pp. 801-808
-
-
Srebrnik, A.1
Tu, E.2
Perluk, C.3
Elman, M.4
Messer, G.5
Ilie, B.6
Krakowski, A.7
-
2
-
-
0023786884
-
Value of looking at leucocytes in every case of ichthyosis
-
Wolf R, Zaitzky A, Pollak S: Value of looking at leucocytes in every case of ichthyosis. Dermatologica 1988;177:237-240.
-
(1988)
Dermatologica
, vol.177
, pp. 237-240
-
-
Wolf, R.1
Zaitzky, A.2
Pollak, S.3
-
3
-
-
0036765362
-
Chanarin-Dorfmann syndrome: A case report
-
Al-Qahtani FN, Salloum AA: Chanarin-Dorfmann syndrome: a case report. Ann Saudi Med 2002;22:5-6.
-
(2002)
Ann Saudi Med
, vol.22
, pp. 5-6
-
-
Al-Qahtani, F.N.1
Salloum, A.A.2
-
4
-
-
85046529868
-
Dorfman-Chanarin syndrome (neutral lipid storage disease): New clinical features
-
Pena-Penabad C, Almagro M, Martinez W, Garcia-Silva J, Del Pozo J, Yebra MT, Sanchez-Manzano C, Fonseca E: Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001;144:445-448.
-
(2001)
Br J Dermatol
, vol.144
, pp. 445-448
-
-
Pena-Penabad, C.1
Almagro, M.2
Martinez, W.3
Garcia-Silva, J.4
Del Pozo, J.5
Yebra, M.T.6
Sanchez-Manzano, C.7
Fonseca, E.8
-
5
-
-
0021806009
-
Neutral lipid storage disease with ichthyosis: Defective lamellar body contents and intracellular dispersion
-
Elias PM, Williams ML: Neutral lipid storage disease with ichthyosis: defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985;121:1000-1008.
-
(1985)
Arch Dermatol
, vol.121
, pp. 1000-1008
-
-
Elias, P.M.1
Williams, M.L.2
-
7
-
-
0033975277
-
Dorfman-Chanarin syndrome in a Turkish kindred: Conductor diagnosis requires analysis of multiple eosinophils
-
Wollenberg A, Geiger E, Schaller M, Wolf H: Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Dermatol Venereol 2000;80:39-43.
-
(2000)
Acta Dermatol Venereol
, vol.80
, pp. 39-43
-
-
Wollenberg, A.1
Geiger, E.2
Schaller, M.3
Wolf, H.4
-
9
-
-
0000798265
-
The familial occurrence of fat-containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva
-
Jordans GH: The familial occurrence of fat-containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva. Acta Med Scand 1953;146:419-424.
-
(1953)
Acta Med Scand
, vol.146
, pp. 419-424
-
-
Jordans, G.H.1
-
11
-
-
0018895779
-
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation
-
Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Lucke S: Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. Ann Neurol 1980;7:5-10.
-
(1980)
Ann Neurol
, vol.7
, pp. 5-10
-
-
Angelini, C.1
Philippart, M.2
Borrone, C.3
Bresolin, N.4
Cantini, M.5
Lucke, S.6
-
12
-
-
0021948803
-
Icthyosisis and neutral lipid storage disease
-
Williams ML, Koch TK, O'Donnell JJ, Frost PH, Epstein LB, Grizzard WS, Epstein CJ: Icthyosisis and neutral lipid storage disease. Am J Med Genet 1985;20:711-726.
-
(1985)
Am J Med Genet
, vol.20
, pp. 711-726
-
-
Williams, M.L.1
Koch, T.K.2
O'Donnell, J.J.3
Frost, P.H.4
Epstein, L.B.5
Grizzard, W.S.6
Epstein, C.J.7
-
13
-
-
0003530688
-
-
Berlin, Springer
-
Traupe H: The Ichthyoses. Berlin, Springer, 1989, pp 189-192.
-
(1989)
The Ichthyoses
, pp. 189-192
-
-
Traupe, H.1
-
14
-
-
0023176837
-
Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy
-
Radom J, Salvayre R, Negre A, Maret A, Douste-Blazy L: Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy. Eur J Biochem 1987;164:703-708.
-
(1987)
Eur J Biochem
, vol.164
, pp. 703-708
-
-
Radom, J.1
Salvayre, R.2
Negre, A.3
Maret, A.4
Douste-Blazy, L.5
-
15
-
-
0018895779
-
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation
-
Angelini C, Philipart M, Borrone C, Bresolin N, Cantini M, Lucke S: Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. Ann Neurol 1980;7:5-10.
-
(1980)
Ann Neurol
, vol.7
, pp. 5-10
-
-
Angelini, C.1
Philipart, M.2
Borrone, C.3
Bresolin, N.4
Cantini, M.5
Lucke, S.6
-
16
-
-
0033644660
-
Dorfman-Chanarin syndrome: A rare neutral lipid storage disease
-
Tullu MS, Muranjan MN, Save SU, Desmukh CT, Khubchandani SR, Bharucha BA: Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. Indian Pediatr 2000:37:88-93.
-
(2000)
Indian Pediatr
, vol.37
, pp. 88-93
-
-
Tullu, M.S.1
Muranjan, M.N.2
Save, S.U.3
Desmukh, C.T.4
Khubchandani, S.R.5
Bharucha, B.A.6
-
17
-
-
0030297526
-
Dorfman syndrome: A case with prevalent hepatic involvement
-
Mela D, Artom A, Goretti R, Varagona G, Riollfo M, Ardoino S, Sanguineti G, Vitali A, Riccardi S: Dorfman syndrome: a case with prevalent hepatic involvement. J Hepatol 1996;25:769-771.
-
(1996)
J Hepatol
, vol.25
, pp. 769-771
-
-
Mela, D.1
Artom, A.2
Goretti, R.3
Varagona, G.4
Riollfo, M.5
Ardoino, S.6
Sanguineti, G.7
Vitali, A.8
Riccardi, S.9
-
18
-
-
2342608019
-
Steatohepatitis and suspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation
-
Ramesh S, Hadzic N, Fischer J, Kniseely AS: Steatohepatitis and suspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. J Pediatr 2004;144:662-665.
-
(2004)
J Pediatr
, vol.144
, pp. 662-665
-
-
Ramesh, S.1
Hadzic, N.2
Fischer, J.3
Kniseely, A.S.4
-
19
-
-
33646225658
-
Lipid myopathy and congenital ichthyosis: A new disorder, probably genetic
-
(abstract)
-
Hays AP, Miranda AF, Johnson WW, Eastwood AB, Olarta M, Mayeux R, Dimarou S: Lipid myopathy and congenital ichthyosis: a new disorder, probably genetic (abstract). J Neuropathol Exp Neurol 1976;35:346.
-
(1976)
J Neuropathol Exp Neurol
, vol.35
, pp. 346
-
-
Hays, A.P.1
Miranda, A.F.2
Johnson, W.W.3
Eastwood, A.B.4
Olarta, M.5
Mayeux, R.6
Dimarou, S.7
-
20
-
-
0018413628
-
Lipid storage myopathy, ichthyosis and steatorrhea
-
Miranda A, DiMauro S, Eastwood A, Hays A, Johnson WG, Olarta M, Whitlock R, Mayeux R, Rowland LP: Lipid storage myopathy, ichthyosis and steatorrhea. Muscle Nerve 1979;2:1-13.
-
(1979)
Muscle Nerve
, vol.2
, pp. 1-13
-
-
Miranda, A.1
DiMauro, S.2
Eastwood, A.3
Hays, A.4
Johnson, W.G.5
Olarta, M.6
Whitlock, R.7
Mayeux, R.8
Rowland, L.P.9
-
21
-
-
0041811886
-
Non-bullous ichthyosiform erythroderma with rickets
-
Devidayal D, Kumar L, Singh M: Non-bullous ichthyosiform erythroderma with rickets. Indian Pediatr 2002;39:207-208.
-
(2002)
Indian Pediatr
, vol.39
, pp. 207-208
-
-
Devidayal, D.1
Kumar, L.2
Singh, M.3
-
22
-
-
0034764272
-
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
-
Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret J-L, Weissenbach J, Ozguc M, Lathrop M, Prud'homme J-F, Fischer J: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001;69:1002-1012.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1002-1012
-
-
Lefevre, C.1
Jobard, F.2
Caux, F.3
Bouadjar, B.4
Karaduman, A.5
Heilig, R.6
Lakhdar, H.7
Wollenberg, A.8
Verret, J.-L.9
Weissenbach, J.10
Ozguc, M.11
Lathrop, M.12
Prud'homme, J.-F.13
Fischer, J.14
-
23
-
-
4344652119
-
CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome
-
Caux F, Ben Selma Z, Laroche L, Prud'homme JF, Fischer J: CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome. Am J Med Genet 2004;129:214.
-
(2004)
Am J Med Genet
, vol.129
, pp. 214
-
-
Caux, F.1
Ben Selma, Z.2
Laroche, L.3
Prud'homme, J.F.4
Fischer, J.5
-
25
-
-
0028276057
-
Neutral lipid storage disease: Case report and lipid studies
-
Judge MR, Atherton DJ, Salvayre R, Hilaire N, Levade T, Johnston DI, Winchester B, Lake BD: Neutral lipid storage disease: case report and lipid studies. Br J Dermatol 1994;130:507-510.
-
(1994)
Br J Dermatol
, vol.130
, pp. 507-510
-
-
Judge, M.R.1
Atherton, D.J.2
Salvayre, R.3
Hilaire, N.4
Levade, T.5
Johnston, D.I.6
Winchester, B.7
Lake, B.D.8
-
26
-
-
33646208178
-
Storage, neutral lipid type
-
Buyse ML (ed): Malden, Blackwell
-
Willliams ML: Storage, neutral lipid type; in Buyse ML (ed): Birth Defects Encyclopedia. Malden, Blackwell, 1990, pp 1607-1608.
-
(1990)
Birth Defects Encyclopedia
, pp. 1607-1608
-
-
Willliams, M.L.1
|