-
1
-
-
0000296829
-
Progressive oral gangrene probably due to lack of catalase in the blood (acatalasemia)
-
Takahara S. Progressive oral gangrene probably due to lack of catalase in the blood (acatalasemia). Lancet. 2:1952;1101-1104.
-
(1952)
Lancet
, vol.2
, pp. 1101-1104
-
-
Takahara, S.1
-
3
-
-
0001054685
-
Acatalasemia
-
C. R Scriver, A. L Beaudet, W. S Sly, & D. Valle. New York: McGraw-Hill
-
Eaton J W, Ma M. Acatalasemia. Scriver C R, Beaudet A L, Sly W S, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;2371-2383 McGraw-Hill, New York.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2371-2383
-
-
Eaton, J.W.1
Ma, M.2
-
4
-
-
0343306572
-
Acatalasemia
-
E. Beutler. New York: Grune and Stratton
-
Aebi H, Bossi E, Cantz M, Matsubara S, Suter H. Acatalasemia. Beutler E. Hereditary Disorders of Erythrocyte Metabolism. 1968;41-83 Grune and Stratton, New York.
-
(1968)
Hereditary Disorders of Erythrocyte Metabolism
, pp. 41-83
-
-
Aebi, H.1
Bossi, E.2
Cantz, M.3
Matsubara, S.4
Suter, H.5
-
5
-
-
0023912614
-
Molecular defect in human acatalasia fibroblast
-
Cawford D R, Mirault M E, Moret R, Zbinden I, Cerutti P A. Molecular defect in human acatalasia fibroblast. Biochem. Biophys. Res. Commun. 153:1988;59-66.
-
(1988)
Biochem. Biophys. Res. Commun.
, vol.153
, pp. 59-66
-
-
Cawford, D.R.1
Mirault, M.E.2
Moret, R.3
Zbinden, I.4
Cerutti, P.A.5
-
6
-
-
0025156747
-
Molecular analysis of human acatalasemia: Identification of a splicing mutation
-
Wen J K, Osumi T, Hashimoto T, Ogata M. Molecular analysis of human acatalasemia: Identification of a splicing mutation. J. Mol. Biol. 211:1990;383-393.
-
(1990)
J. Mol. Biol.
, vol.211
, pp. 383-393
-
-
Wen, J.K.1
Osumi, T.2
Hashimoto, T.3
Ogata, M.4
-
7
-
-
0026544886
-
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients
-
Kishimoto Y, Murakami Y, Hayashi K, Takahara S, Sugimura T, Sekiya T. Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. Hum. Genet. 88:1992;487-490.
-
(1992)
Hum. Genet.
, vol.88
, pp. 487-490
-
-
Kishimoto, Y.1
Murakami, Y.2
Hayashi, K.3
Takahara, S.4
Sugimura, T.5
Sekiya, T.6
-
8
-
-
0029415117
-
A novel human catalase mutation (358 T-del) causing Japanese type acatalasemia
-
Hirono A, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S. A novel human catalase mutation (358 T-del) causing Japanese type acatalasemia. Blood Cell Mol. Dis. 21:1995;232-233.
-
(1995)
Blood Cell Mol. Dis.
, vol.21
, pp. 232-233
-
-
Hirono, A.1
Sasaya-Hamada, F.2
Kanno, H.3
Fujii, H.4
Yoshida, T.5
Miwa, S.6
-
9
-
-
0027129196
-
Two cases of acatalasemia in Hungary
-
Góth L. Two cases of acatalasemia in Hungary. Clin. Chim. Acta. 207:1992;155-158.
-
(1992)
Clin. Chim. Acta
, vol.207
, pp. 155-158
-
-
Góth, L.1
-
10
-
-
0030075224
-
Hypocatalasemia in hospital patients
-
Góth L, Vitai M. Hypocatalasemia in hospital patients. Clin. Chem. 42:1996;341-342.
-
(1996)
Clin. Chem.
, vol.42
, pp. 341-342
-
-
Góth, L.1
Vitai, M.2
-
11
-
-
0027089752
-
Characterization of acatalasemia detected in two Hungarian sisters
-
Góth L. Characterization of acatalasemia detected in two Hungarian sisters. Enzyme. 46:1992;252-258.
-
(1992)
Enzyme
, vol.46
, pp. 252-258
-
-
Góth, L.1
-
12
-
-
0029846912
-
Genetic heterogeneity in acatalasemia
-
Góth L, Páy A. Genetic heterogeneity in acatalasemia. Electrophoresis. 17:1996;1302-1303.
-
(1996)
Electrophoresis
, vol.17
, pp. 1302-1303
-
-
Góth, L.1
Páy, A.2
-
13
-
-
0343923639
-
Further genetic heterogeneity in acatalasemia
-
Góth L. Further genetic heterogeneity in acatalasemia. Electrophoresis. 18:1997;1942-1943.
-
(1997)
Electrophoresis
, vol.18
, pp. 1942-1943
-
-
Góth, L.1
-
14
-
-
0345294370
-
Genetic heterogeneity of the 5′ uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients
-
Góth L. Genetic heterogeneity of the 5′ uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients. Clin. Chim. Acta. 271:1998;73-78.
-
(1998)
Clin. Chim. Acta
, vol.271
, pp. 73-78
-
-
Góth, L.1
-
16
-
-
0022179287
-
The active center of catalase
-
Fita I, Rossman M G. The active center of catalase. J. Mol. Biol. 185:1985;21-73.
-
(1985)
J. Mol. Biol.
, vol.185
, pp. 21-73
-
-
Fita, I.1
Rossman, M.G.2
-
17
-
-
0029959247
-
Dynamic mutations pose unique challenges for the molecular diagnostic laboratory
-
McGlennen R C. Dynamic mutations pose unique challenges for the molecular diagnostic laboratory. Clin. Chem. 42:1996;1582-1588.
-
(1996)
Clin. Chem.
, vol.42
, pp. 1582-1588
-
-
McGlennen, R.C.1
|