-
1
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
-
Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984;144:245-7.
-
(1984)
Clin Chim Acta
, vol.144
, pp. 245-247
-
-
Jaeken, J.1
Van Eijk, H.G.2
Van Der Heul, C.3
Corbeel, L.4
Eeckels, R.5
Eggermont, E.6
-
3
-
-
0025775842
-
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement
-
Jaeken J, Stibler H, Hagberg B, eds. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand 1991;80(suppl)375:6-62.
-
(1991)
Acta Paediatr Scand
, vol.80
, Issue.375 SUPPL.
, pp. 6-62
-
-
Jaeken, J.1
Stibler, H.2
Hagberg, B.3
-
4
-
-
0027290048
-
Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
-
Hagberg B, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr Neurol 1993;9:255-62.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 255-262
-
-
Hagberg, B.1
Blennow, G.2
Kristiansson, B.3
Stibler, H.4
-
5
-
-
0028358262
-
The carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease
-
Stibler H, Blennow G, Kristiansson B, Lindehammar H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 1994;57:552-6.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 552-556
-
-
Stibler, H.1
Blennow, G.2
Kristiansson, B.3
Lindehammar, H.4
Hagberg, B.5
-
6
-
-
0025775843
-
Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome
-
Stibler H, Jaeken J, Kristiansson B. Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 1991;80(suppl)375:21-31.
-
(1991)
Acta Paediatr Scand
, vol.80
, Issue.375 SUPPL.
, pp. 21-31
-
-
Stibler, H.1
Jaeken, J.2
Kristiansson, B.3
-
7
-
-
0031081725
-
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1): Linkage disequilibrium and founder effect in Scandinavian families
-
Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T. Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. Genomics 1997;39:247-53.
-
(1997)
Genomics
, vol.39
, pp. 247-253
-
-
Bjursell, C.1
Stibler, H.2
Wahlström, J.3
Kristiansson, B.4
Skovby, F.5
Strömme, P.6
Blennow, G.7
Martinsson, T.8
-
8
-
-
0027398495
-
Early manifestations of the carbohydrate-deficient glycoprotein syndrome
-
Pedersen MB, Broström K, Stibler H, Skovby F. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 1993;122:66-70.
-
(1993)
J Pediatr
, vol.122
, pp. 66-70
-
-
Pedersen, M.B.1
Broström, K.2
Stibler, H.3
Skovby, F.4
-
9
-
-
0027440619
-
The carbohydrate deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
-
Jaeken J, Carchon, Stibler H. The carbohydrate deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-28.
-
(1993)
Glycobiology
, vol.3
, pp. 423-428
-
-
Jaeken, J.1
Carchon2
Stibler, H.3
-
10
-
-
0345260084
-
Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
-
Kristiansson B, Stibler H, Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr 1995;154:35-42.
-
(1995)
Acta Paediatr
, vol.154
, pp. 35-42
-
-
Kristiansson, B.1
Stibler, H.2
Wide, L.3
-
11
-
-
0030000096
-
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein (CDG) syndrome
-
Stibler H, Holzbach U, Tengbom L, Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein (CDG) syndrome. Blood Consul Fibrinolysis 1996;7:118-26.
-
(1996)
Blood Consul Fibrinolysis
, vol.7
, pp. 118-126
-
-
Stibler, H.1
Holzbach, U.2
Tengbom, L.3
Kristiansson, B.4
-
12
-
-
0029585865
-
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
-
Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-20.
-
(1995)
FEBS Lett
, vol.377
, pp. 318-320
-
-
Van Schaftingen, E.1
Jaeken, J.2
-
13
-
-
0015025479
-
Test-meal in the diagnosis of malabsorption in infancy
-
Norman A, Strandvik B, Zetterström R. Test-meal in the diagnosis of malabsorption in infancy. Acta Paediatr 1971;60:165-72.
-
(1971)
Acta Paediatr
, vol.60
, pp. 165-172
-
-
Norman, A.1
Strandvik, B.2
Zetterström, R.3
-
14
-
-
0014729989
-
Determination of trypsin in duodenal fluid as a test of pancreatic function
-
Bergström K, Lundh G. Determination of trypsin in duodenal fluid as a test of pancreatic function. Scand J Gastroenterol 1970;5:533-6.
-
(1970)
Scand J Gastroenterol
, vol.5
, pp. 533-536
-
-
Bergström, K.1
Lundh, G.2
-
15
-
-
50549163362
-
The preparation of two new chromogenic substrates of trypsin
-
Erlanger BF, Kokoweski N, Cohen W. The preparation of two new chromogenic substrates of trypsin. Arch Biochem Biophys 1961; 95:271-8.
-
(1961)
Arch Biochem Biophys
, vol.95
, pp. 271-278
-
-
Erlanger, B.F.1
Kokoweski, N.2
Cohen, W.3
-
16
-
-
0016720266
-
Elastolytic activity of human duodenal contents
-
Fric P, Slaby J, Kasafierek E. Elastolytic activity of human duodenal contents. Clin Chim Acta 1975;63:309-16.
-
(1975)
Clin Chim Acta
, vol.63
, pp. 309-316
-
-
Fric, P.1
Slaby, J.2
Kasafierek, E.3
-
18
-
-
0018654532
-
Immunochemical determination of trypsin and elastase in human duodenal juice
-
Borulf S, Lindberg T, Månsson M. Immunochemical determination of trypsin and elastase in human duodenal juice. Clin Chim Acta 1979;96:215-23.
-
(1979)
Clin Chim Acta
, vol.96
, pp. 215-223
-
-
Borulf, S.1
Lindberg, T.2
Månsson, M.3
-
19
-
-
0014677394
-
A new method for determination of alpha-amylase
-
Ceska M, Hultman E, Ingelman BG. A new method for determination of alpha-amylase. Experientia 1969;25:555-61.
-
(1969)
Experientia
, vol.25
, pp. 555-561
-
-
Ceska, M.1
Hultman, E.2
Ingelman, B.G.3
-
20
-
-
0016753231
-
Lipase and colipase activities of human small intestinal contents after a liquid test meal
-
Borgström B, Hildebrand H. Lipase and colipase activities of human small intestinal contents after a liquid test meal. Scand J Gastroenterol 1975;10:585-91.
-
(1975)
Scand J Gastroenterol
, vol.10
, pp. 585-591
-
-
Borgström, B.1
Hildebrand, H.2
-
21
-
-
0019853362
-
Infants with low rate of weight gain. A study of organic factors and growth patterns
-
Kristiansson B, Karlberg J, Fällström SP. Infants with low rate of weight gain. A study of organic factors and growth patterns. Acta Paediatr Scand 1981;70:655-62.
-
(1981)
Acta Paediatr Scand
, vol.70
, pp. 655-662
-
-
Kristiansson, B.1
Karlberg, J.2
Fällström, S.P.3
-
22
-
-
0017158626
-
Svennberg-Redegren I. The somatic development of children in a Swedish urban community
-
Karlberg P, Taranger J, Engström I, Lichtenstein H. Svennberg-Redegren I. The somatic development of children in a Swedish urban community. Acta Paediatr Scand 1976;65(suppl):7-76.
-
(1976)
Acta Paediatr Scand
, vol.65
, Issue.SUPPL.
, pp. 7-76
-
-
Karlberg, P.1
Taranger, J.2
Engström, I.3
Lichtenstein, H.4
-
23
-
-
0344828849
-
Gastrointestinal food allergy
-
Kirschner BS, Walker-Smith JA, eds. Paediatric gastroenterology
-
Stern M. Gastrointestinal food allergy. In: Kirschner BS, Walker-Smith JA, eds. Paediatric gastroenterology. Baillières Clin Paediatr 1994;2:723-46.
-
(1994)
Baillières Clin Paediatr
, vol.2
, pp. 723-746
-
-
Stern, M.1
-
25
-
-
0344397212
-
Perinatal development of the exocrine pancreas
-
Tanner MS, Stocks RJ, eds. Newcastle-upon-Tyne: Intercept
-
Lebenthal E, Heitlinger LA. Perinatal development of the exocrine pancreas. In: Tanner MS, Stocks RJ, eds. Neonatal gastroenterology. Contemporary issues. Newcastle-upon-Tyne: Intercept, 1984:179-92.
-
(1984)
Neonatal Gastroenterology. Contemporary Issues
, pp. 179-192
-
-
Lebenthal, E.1
Heitlinger, L.A.2
-
26
-
-
0025819804
-
Liver pathology in the carbohydrate-deficient glycoprotein syndrome
-
Conradi N, de Vos R, Jaeken J, Lundin P, Kristiansson B, Van Hoof F. Liver pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 1991;80(suppl)375:50-4.
-
(1991)
Acta Paediatr Scand
, vol.80
, Issue.375 SUPPL.
, pp. 50-54
-
-
Conradi, N.1
De Vos, R.2
Jaeken, J.3
Lundin, P.4
Kristiansson, B.5
Van Hoof, F.6
-
27
-
-
0002012629
-
Chronic hepatitis
-
Suchy FJ, ed. St Louis: Mosby
-
Trivedi P, Mowat A. Chronic hepatitis. In: Suchy FJ, ed. Liver Disease in Children. St Louis: Mosby, 1994:510-22.
-
(1994)
Liver Disease in Children
, pp. 510-522
-
-
Trivedi, P.1
Mowat, A.2
-
29
-
-
0028924164
-
Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence
-
De Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 1995;37:395-401.
-
(1995)
Pediatr Res
, vol.37
, pp. 395-401
-
-
De Zegher, F.1
Jaeken, J.2
-
30
-
-
0022517548
-
Somatomedin-C levels in growth-impaired children and adolescents with inflammatory bowel disease
-
Kirschner BS, Sutton MM. Somatomedin-C levels in growth-impaired children and adolescents with inflammatory bowel disease. Gastroenterology 1986;91:830-6.
-
(1986)
Gastroenterology
, vol.91
, pp. 830-836
-
-
Kirschner, B.S.1
Sutton, M.M.2
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