-
1
-
-
0025903395
-
Asthma as the first presenting symptom of complex glycerol kinase deficiency
-
Sakura N, Nishimura S, Kawahara N, Komazawa Y, Yamaguchi S: Asthma as the first presenting symptom of complex glycerol kinase deficiency. Acta Pediatr Scand 1991;80:723-725.
-
(1991)
Acta Pediatr Scand
, vol.80
, pp. 723-725
-
-
Sakura, N.1
Nishimura, S.2
Kawahara, N.3
Komazawa, Y.4
Yamaguchi, S.5
-
2
-
-
0344149901
-
Glycerol kinase deficiency
-
Chales R, Arthur L, Williams SS, David V (eds): New York, ed. 7. McGraw-Hill
-
McCabe ERB: Glycerol kinase deficiency; in Chales R, Arthur L, Williams SS, David V (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, ed. 7. McGraw-Hill, 1995, pp 1637-1643.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1637-1643
-
-
McCabe, E.R.B.1
-
3
-
-
0023686019
-
Complex glycerol kinase deficiency: Molecular-genetic, cytogenetic and clinical studies of five japanese patients
-
Matsumoto T, Kondoh T, Yoshimoto M, Fujieda K, Matsura N, Matsuda I, Miike T, Yano K, Okuno A, Aoki Y, Murano I, Toyota S, Ohnishi S, Niikawa N: Complex glycerol kinase deficiency: Molecular-genetic, cytogenetic and clinical studies of five Japanese patients. Am J Med Genet 1998;31:603-616.
-
(1998)
Am J Med Genet
, vol.31
, pp. 603-616
-
-
Matsumoto, T.1
Kondoh, T.2
Yoshimoto, M.3
Fujieda, K.4
Matsura, N.5
Matsuda, I.6
Miike, T.7
Yano, K.8
Okuno, A.9
Aoki, Y.10
Murano, I.11
Toyota, S.12
Ohnishi, S.13
Niikawa, N.14
-
4
-
-
0027510240
-
Severity scoring of atopic dermatitis: The SCORAD index
-
European task force on atopic dermatitis: Severity scoring of atopic dermatitis: The SCORAD index. Dermatology 1993;186:23-31.
-
(1993)
Dermatology
, vol.186
, pp. 23-31
-
-
-
5
-
-
0023760691
-
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: A case report with cytogenetic and molecular genetic studies
-
Yoshimoto M, Baba T, Fukuda S, Matsumoto T, Hayashi S, Niikawa N, Matsuda I, Tsuji Y: Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: A case report with cytogenetic and molecular genetic studies. Acta Paediatr Jpn 1988;30:615-620.
-
(1988)
Acta Paediatr Jpn
, vol.30
, pp. 615-620
-
-
Yoshimoto, M.1
Baba, T.2
Fukuda, S.3
Matsumoto, T.4
Hayashi, S.5
Niikawa, N.6
Matsuda, I.7
Tsuji, Y.8
-
6
-
-
0031828025
-
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
-
Sjarif DR, Sinke RJ, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT: Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J Med Genet 1998;35:650-656.
-
(1998)
J Med Genet
, vol.35
, pp. 650-656
-
-
Sjarif, D.R.1
Sinke, R.J.2
Beemer, F.A.3
Kleijer, W.J.4
Ploos Van Amstel, J.K.5
Poll-The, B.T.6
-
7
-
-
0027427165
-
Induction of human IgE synthesis in B cells by mast cells and basophils
-
Gauchat J, Henchoz S, Mazzei G, Aubry J, Brunner T, et al: Induction of human IgE synthesis in B cells by mast cells and basophils. Nature 1993; 23:340-343.
-
(1993)
Nature
, vol.23
, pp. 340-343
-
-
Gauchat, J.1
Henchoz, S.2
Mazzei, G.3
Aubry, J.4
Brunner, T.5
-
8
-
-
0027533185
-
Defective expression of T cell CD40 ligand causes x-linked immunodeficiency with hyper IgM
-
Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA: Defective expression of T cell CD40 ligand causes X-linked immunodeficiency with hyper IgM. Nature 1993;361:539-541.
-
(1993)
Nature
, vol.361
, pp. 539-541
-
-
Korthauer, U.1
Graf, D.2
Mages, H.W.3
Briere, F.4
Padayachee, M.5
Malcolm, S.6
Ugazio, A.G.7
Notarangelo, L.D.8
Levinsky, R.J.9
Kroczek, R.A.10
-
9
-
-
0001325237
-
The association of atopy with a gain-of-function mutation in the α subunit of the interleukin-4 receptor
-
Hershey GKK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA: The association of atopy with a gain-of-function mutation in the α subunit of the interleukin-4 receptor. N Engl J Med 1997;337:1720-1725.
-
(1997)
N Engl J Med
, vol.337
, pp. 1720-1725
-
-
Hershey, G.K.K.1
Friedrich, M.F.2
Esswein, L.A.3
Thomas, M.L.4
Chatila, T.A.5
-
10
-
-
0029931278
-
Abnormal expression of sphingomyelin acylase in atopic dermatitis: An etiologic factor for ceramide deficiency?
-
Murata Y, Ogata J, Higaki Y, Kawashima M, Yada Y, Higuchi K, Tsuchiya T, Kawainami S, Imokawa G: Abnormal expression of sphingomyelin acylase in atopic dermatitis: An etiologic factor for ceramide deficiency? J Invest Dermatol 1996;106:1242-1249.
-
(1996)
J Invest Dermatol
, vol.106
, pp. 1242-1249
-
-
Murata, Y.1
Ogata, J.2
Higaki, Y.3
Kawashima, M.4
Yada, Y.5
Higuchi, K.6
Tsuchiya, T.7
Kawainami, S.8
Imokawa, G.9
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