-
1
-
-
0001662863
-
Disorders of fructose metabolism
-
Scriver C, Baudet A, Sly W, Valle D (eds) McGraw-Hill, New York
-
Gitzelmann R, Steinmann B, Van den Berghe G 1995 Disorders of fructose metabolism. In: Scriver C, Baudet A, Sly W, Valle D (eds) The Metabolic and Molecular Bases of Disease. McGraw-Hill, New York, pp 905-934
-
(1995)
The Metabolic and Molecular Bases of Disease
, pp. 905-934
-
-
Gitzelmann, R.1
Steinmann, B.2
Van Den Berghe, G.3
-
2
-
-
0029995127
-
Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia
-
Adamowicz M, Pronicka E 1996 Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia. Eur J Pediatr 155:347-348
-
(1996)
Eur J Pediatr
, vol.155
, pp. 347-348
-
-
Adamowicz, M.1
Pronicka, E.2
-
3
-
-
0000249979
-
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased arylsulphatase A and increased CSF protein: A new syndrome?
-
Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels R 1980 Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 14:179
-
(1980)
Pediatr Res
, vol.14
, pp. 179
-
-
Jaeken, J.1
Vanderschueren-Lodeweyckx, M.2
Casaer, P.3
Snoeck, L.4
Corbeel, L.5
Eggermont, E.6
Eeckels, R.7
-
4
-
-
0027440619
-
The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
-
Jaeken J, Carchon H, Stibler H 1993 The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 3:423-428
-
(1993)
Glycobiology
, vol.3
, pp. 423-428
-
-
Jaeken, J.1
Carchon, H.2
Stibler, H.3
-
5
-
-
0028358262
-
Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease
-
Stibler H, Blennow G, Kristiansson B, Lindehammer H, Hagberg B 1994 Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 57:552-556
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 552-556
-
-
Stibler, H.1
Blennow, G.2
Kristiansson, B.3
Lindehammer, H.4
Hagberg, B.5
-
6
-
-
0029585865
-
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
-
Van Schaftingen E, Jaeken J 1995 Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377:318-320
-
(1995)
FEBS Lett
, vol.377
, pp. 318-320
-
-
Van Schaftingen, E.1
Jaeken, J.2
-
7
-
-
0026492422
-
Serum lysosomal enzyme abnormalities in galactosemia
-
Jaeken J, Kint J, Spaapen L 1992 Serum lysosomal enzyme abnormalities in galactosemia. Lancet 340:1472-1473
-
(1992)
Lancet
, vol.340
, pp. 1472-1473
-
-
Jaeken, J.1
Kint, J.2
Spaapen, L.3
-
8
-
-
0025341608
-
The mechanism by which rat liver glucokinase is inhibited by the regulatory protein
-
Vandercammen A, Van Schaftingen E 1990 The mechanism by which rat liver glucokinase is inhibited by the regulatory protein. Eur J Biochem 191:483-489
-
(1990)
Eur J Biochem
, vol.191
, pp. 483-489
-
-
Vandercammen, A.1
Van Schaftingen, E.2
-
9
-
-
10344229493
-
Inhibition of glucose phosphate isomerase by metabolic intermediates of fructose
-
Zalitis J, Oliver IT 1967 Inhibition of glucose phosphate isomerase by metabolic intermediates of fructose. Biochem J 102:753-759
-
(1967)
Biochem J
, vol.102
, pp. 753-759
-
-
Zalitis, J.1
Oliver, I.T.2
-
11
-
-
10344243024
-
Eine biochemische Untersuchung über zwei Fälle von Fructoseintoleranz
-
Pitkänen E, Perheentupa J 1962 Eine biochemische Untersuchung über zwei Fälle von Fructoseintoleranz. Ann Paediatr Fenn 8:236-244
-
(1962)
Ann Paediatr Fenn
, vol.8
, pp. 236-244
-
-
Pitkänen, E.1
Perheentupa, J.2
-
12
-
-
10344266002
-
Galactosemia, a carbohydrate-deficient glycoprotein syndrome
-
Society for the Study of Inborn Errors of Metabolism, Leuven
-
Spaapen LJM, Vulsma T, Theunissen PMVM, van der Meer SB, Jaeken J 1992 Galactosemia, a carbohydrate-deficient glycoprotein syndrome. Abstracts of the 30th Annual Symposium, Society for the Study of Inborn Errors of Metabolism, Leuven
-
(1992)
Abstracts of the 30th Annual Symposium
-
-
Spaapen, L.J.M.1
Vulsma, T.2
Theunissen, P.M.V.M.3
Van Der Meer, S.B.4
Jaeken, J.5
-
13
-
-
85035173326
-
Two new cases of generalized UDP-galactose-4-epimerase deficiency: Abnormal transferrin patterns at presentation
-
Society for the Study of Inborn Errors of Metabolism, Toledo
-
Besley GTN, Bridge C, Marsh LM, Wraith JE, Walter JH 1995 Two new cases of generalized UDP-galactose-4-epimerase deficiency: abnormal transferrin patterns at presentation. Abstracts of the 33rd Annual Symposium, Society for the Study of Inborn Errors of Metabolism, Toledo
-
(1995)
Abstracts of the 33rd Annual Symposium
-
-
Besley, G.T.N.1
Bridge, C.2
Marsh, L.M.3
Wraith, J.E.4
Walter, J.H.5
-
14
-
-
85035172018
-
Altered protein glycosylation in CDGS type I and galactosemia
-
Society for the Study of Inborn Errors of Metabolism, Toledo
-
Charlwood J, Mian N, Johnson A, Clayton P, Keir G, Winchester B 1995 Altered protein glycosylation in CDGS type I and galactosemia. Abstracts of the 33rd Annual Symposium, Society for the Study of Inborn Errors of Metabolism, Toledo
-
(1995)
Abstracts of the 33rd Annual Symposium
-
-
Charlwood, J.1
Mian, N.2
Johnson, A.3
Clayton, P.4
Keir, G.5
Winchester, B.6
|