-
1
-
-
0028324466
-
Multisystem triglyceride storage disorder without ichthyosis in two siblings
-
Wessalowski R, Schroten H, Neuen-Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit T 1994 Multisystem triglyceride storage disorder without ichthyosis in two siblings. Acta Paediatr 83:93-98.
-
(1994)
Acta Paediatr
, vol.83
, pp. 93-98
-
-
Wessalowski, R.1
Schroten, H.2
Neuen-Jacob, E.3
Reichmann, H.4
Melnik, B.C.5
Lenard, H.G.6
Voit, T.7
-
2
-
-
0016612085
-
Neutral-lipid storage disease: A new disorder of lipid metabolism
-
Chanarin I, Patel A, Slavin G, Wils EJ, Andrews TM, Stewart G 1975 Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J 1:553-555.
-
(1975)
Br Med J
, vol.1
, pp. 553-555
-
-
Chanarin, I.1
Patel, A.2
Slavin, G.3
Wils, E.J.4
Andrews, T.M.5
Stewart, G.6
-
3
-
-
0023852589
-
Ichthyosis and neutral lipid storage disease
-
Musumeci S, D'Agata A, Romano C, Patane R, Cutrona D 1988 Ichthyosis and neutral lipid storage disease. Am Med J Genet 29:377-382.
-
(1988)
Am Med J Genet
, vol.29
, pp. 377-382
-
-
Musumeci, S.1
D'Agata, A.2
Romano, C.3
Patane, R.4
Cutrona, D.5
-
4
-
-
0023616073
-
Dorfman-Chanarin syndrome: A case report and a review
-
Srebrnik A, Tur E, Perluk C, Elman M, Messer G, Ilie B, Krakowski A 1987 Dorfman-Chanarin syndrome: a case report and a review. J Am Acad Dermatol 17:801-808.
-
(1987)
J Am Acad Dermatol
, vol.17
, pp. 801-808
-
-
Srebrnik, A.1
Tur, E.2
Perluk, C.3
Elman, M.4
Messer, G.5
Ilie, B.6
Krakowski, A.7
-
5
-
-
0033975277
-
Dorfman-Chanarin syndrome in a Turkish kindred: Conductor diagnosis requires analysis of multiple eosinophils
-
Wollenberg A, Geiger E, Schaller M, Wolff H 2000 Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol 80:39-43.
-
(2000)
Acta Derm Venereol
, vol.80
, pp. 39-43
-
-
Wollenberg, A.1
Geiger, E.2
Schaller, M.3
Wolff, H.4
-
6
-
-
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 JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J 2001 Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman Syndrome. Am J Hum Genet 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
Ozgüc, M.11
Lathrop, M.12
Prud'homme, J.F.13
Fischer, J.14
-
7
-
-
21844475073
-
Two new mutations of the ABHD5 gene in a new adult case of Chanarin-Dorfman syndrome: An uncommon lipid storage disease
-
Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF 2005 Two new mutations of the ABHD5 gene in a new adult case of Chanarin-Dorfman syndrome: an uncommon lipid storage disease. Arch Dermatol 141:798-800.
-
(2005)
Arch Dermatol
, vol.141
, pp. 798-800
-
-
Schleinitz, N.1
Fischer, J.2
Sanchez, A.3
Veit, V.4
Harle, J.R.5
Pelissier, J.F.6
-
8
-
-
0023694276
-
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
-
Di Donato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G 1988 Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. Neurology 38:1107-1110.
-
(1988)
Neurology
, vol.38
, pp. 1107-1110
-
-
Di Donato, S.1
Garavaglia, B.2
Strisciuglio, P.3
Borrone, C.4
Andria, G.5
-
9
-
-
0025967453
-
Neutral lipid storage disease: A possible functional defect in phospholipid- linked triacylglycerol metabolism
-
Williams ML, Coleman RA, Placezk D, Grunfeld C 1991 Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. Biochim Biophys Acta 1096:162-169
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 162-169
-
-
Williams, M.L.1
Coleman, R.A.2
Placezk, D.3
Grunfeld, C.4
-
10
-
-
0042171657
-
Specific cardiomyopathy caused by multisystemic lipid storage in Jordan's anomaly
-
Nagai H, Oshima Y, Hirota H, Izumi M, Sugiyama S, Nakaoka Y, Terai K, Hasegawa S, Tateyama H, Kikui M, Yamauchi-Takihara K, Kawase I 2003 Specific cardiomyopathy caused by multisystemic lipid storage in Jordan's anomaly. Internal Medicine 42:587-590.
-
(2003)
Internal Medicine
, vol.42
, pp. 587-590
-
-
Nagai, H.1
Oshima, Y.2
Hirota, H.3
Izumi, M.4
Sugiyama, S.5
Nakaoka, Y.6
Terai, K.7
Hasegawa, S.8
Tateyama, H.9
Kikui, M.10
Yamauchi-Takihara, K.11
Kawase, I.12
-
11
-
-
0034122306
-
Follicular carcinoma of the thyroid with extensive clear-cell differentiation: A potential diagnostic pitfall
-
Ropp BG, Solomides C, Palazzo J, Bibbo M 2000 Follicular carcinoma of the thyroid with extensive clear-cell differentiation: a potential diagnostic pitfall. Diagn Cytopathol 22: 398-399.
-
(2000)
Diagn Cytopathol
, vol.22
, pp. 398-399
-
-
Ropp, B.G.1
Solomides, C.2
Palazzo, J.3
Bibbo, M.4
-
12
-
-
0842327242
-
Renal cell carcinoma metastatic to follicular adenoma of the thyroid gland. A case report
-
Koo HL, Jang J, Hong SJ, Shong Y, Gong G 2004 Renal cell carcinoma metastatic to follicular adenoma of the thyroid gland. A case report. Acta Cytol 48:64-68.
-
(2004)
Acta Cytol
, vol.48
, pp. 64-68
-
-
Koo, H.L.1
Jang, J.2
Hong, S.J.3
Shong, Y.4
Gong, G.5
-
14
-
-
34147183349
-
Carcinoma of ovary and lung with clear cell features: Can immunohistochemistry help in differential diagnosis? Int Gynecol
-
Howell NR, Zheng W, Cheng L, Tornos C, Kane P, Pearl M, Chalas E, Liang SX 2007 Carcinoma of ovary and lung with clear cell features: can immunohistochemistry help in differential diagnosis? Int Gynecol Pathol 26:134-140.
-
(2007)
Pathol
, vol.26
, pp. 134-140
-
-
Howell, N.R.1
Zheng, W.2
Cheng, L.3
Tornos, C.4
Kane, P.5
Pearl, M.6
Chalas, E.7
Liang, S.X.8
-
15
-
-
0035004975
-
Secondary thyroid carcinoma after treatment for clear cell carcinoma of the uterus: Case report and review of the literature
-
Postovsky S, Beck D, Ben-Izhak O, Arush MW 2001 Secondary thyroid carcinoma after treatment for clear cell carcinoma of the uterus: case report and review of the literature. J Pediatr Hematol Oncol 23:257-258.
-
(2001)
J Pediatr Hematol Oncol
, vol.23
, pp. 257-258
-
-
Postovsky, S.1
Beck, D.2
Ben-Izhak, O.3
Arush, M.W.4
|