-
1
-
-
0036479030
-
Identification of a variant associated with adult type hypolactasia
-
Enattah NS, Sahi T, Savilahti E, et al. Identification of a variant associated with adult type hypolactasia. Nat Genet 2002;30:233-7.
-
(2002)
Nat Genet
, vol.30
, pp. 233-237
-
-
Enattah, N.S.1
Sahi, T.2
Savilahti, E.3
-
3
-
-
0031750479
-
The genetically programmed downregulation of lactase in children
-
Wang, YX, Harvey, CB, Hollux EJ, et al. The genetically programmed downregulation of lactase in children. Gastroenterology 1998;114:1230-6.
-
(1998)
Gastroenterology
, vol.114
, pp. 1230-1236
-
-
Wang, Y.X.1
Harvey, C.B.2
Hollux, E.J.3
-
5
-
-
0029015359
-
Congenital sucrase-isomaltase deficiency
-
Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1995;21:1-14.
-
(1995)
J Pediatr Gastroenterol Nutr
, vol.21
, pp. 1-14
-
-
Treem, W.R.1
-
6
-
-
0028280899
-
Small intestinal glucoamylase deficiency and starch malabsorption: A newly recognized alpha-glucosidase deficiency in children
-
Lebenthal E, Khin-Muang-U, Zheng B, et al. Small intestinal glucoamylase deficiency and starch malabsorption: A newly recognized alpha-glucosidase deficiency in children. J Pediatr 1994;124:541-6.
-
(1994)
J Pediatr
, vol.124
, pp. 541-546
-
-
Lebenthal, E.1
Khin-Muang, U.2
Zheng, B.3
-
7
-
-
0023783489
-
Sucrase-isomaltase deficiency in humans: Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme
-
Naim, HY, Roth, J, Sterchi, E, et al. Sucrase-isomaltase deficiency in humans: Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. J Clin Invest 1988;82:667-79.
-
(1988)
J Clin Invest
, vol.82
, pp. 667-679
-
-
Naim, H.Y.1
Roth, J.2
Sterchi, E.3
-
8
-
-
0021995494
-
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency
-
Hauri HP, Roth J, Sterchi EE, et al. Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. Proc Natl Acad Sci U S A 1985;82:4423-7.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, pp. 4423-4427
-
-
Hauri, H.P.1
Roth, J.2
Sterchi, E.E.3
-
9
-
-
0023118653
-
A study of the molecular pathology of sucrase-isomaltase deficiency: A defect in the intracellular processing of the enzyme
-
Lloyd ML, Olsen WA. A study of the molecular pathology of sucrase-isomaltase deficiency: A defect in the intracellular processing of the enzyme. N Eng J Med 1987;316:438-42.
-
(1987)
N Eng J Med
, vol.316
, pp. 438-442
-
-
Lloyd, M.L.1
Olsen, W.A.2
-
10
-
-
0030062178
-
Congenital sucrase-isomaltase deficiency: Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment
-
Ouwendijk J, Moolenaar CEC, Peters WJ, et al. Congenital sucrase-isomaltase deficiency: Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. J Clin Invest 1996;97:633-41,
-
(1996)
J Clin Invest
, vol.97
, pp. 633-641
-
-
Ouwendijk, J.1
Moolenaar, C.E.C.2
Peters, W.J.3
-
11
-
-
0033929748
-
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme
-
Jacob R, Zimmer JR, Schmitz J, et al. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. J Clin Invest 2000;106:281-7.
-
(2000)
J Clin Invest
, vol.106
, pp. 281-287
-
-
Jacob, R.1
Zimmer, J.R.2
Schmitz, J.3
-
12
-
-
0035968178
-
Molecular basis of aberrant protein transport in an intestinal enzyme disorder
-
Spodsberg N, Jacob R, Alfalah M, et al. Molecular basis of aberrant protein transport in an intestinal enzyme disorder. J Biol Chem 2001;276:23506-10.
-
(2001)
J Biol Chem
, vol.276
, pp. 23506-23510
-
-
Spodsberg, N.1
Jacob, R.2
Alfalah, M.3
-
13
-
-
0031003841
-
A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention
-
Moolenaar CEC, Ouwendijk J, Wittpoth M, et al. A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention. J Cell Sci 1997;110:557-67.
-
(1997)
J Cell Sci
, vol.110
, pp. 557-567
-
-
Moolenaar, C.E.C.1
Ouwendijk, J.2
Wittpoth, M.3
-
14
-
-
0024268345
-
Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase
-
Naim HY, Sterchi EE, Lentze MJ. Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase. J Biol Chem 1988;263:19709-17.
-
(1988)
J Biol Chem
, vol.263
, pp. 19709-19717
-
-
Naim, H.Y.1
Sterchi, E.E.2
Lentze, M.J.3
-
15
-
-
0032579520
-
Human small intestinal maltase-glucoamylase cDNA cloning
-
Nichols B, Eldering J, Avery S, Hahn D, Quaroni A, Sterchi E. Human small intestinal maltase-glucoamylase cDNA cloning. J Biol Chem 1988;273:3076-81.
-
(1988)
J Biol Chem
, vol.273
, pp. 3076-3081
-
-
Nichols, B.1
Eldering, J.2
Avery, S.3
Hahn, D.4
Quaroni, A.5
Sterchi, E.6
-
16
-
-
0037010071
-
Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies: Pleiotropic gene regulation?
-
in press
-
Nichols B, Avery SE, Karnsakul W. et al. Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies: Pleiotropic gene regulation? J Pediatr Gastroenterol Nutr 2002 (in press).
-
(2002)
J Pediatr Gastroenterol Nutr
-
-
Nichols, B.1
Avery, S.E.2
Karnsakul, W.3
-
17
-
-
0019201630
-
Glucoamylase and disaccharidase activities in normal subjects and in patients with mucosal injury of the small intestine
-
Lebenthal E, Lee PC. Glucoamylase and disaccharidase activities in normal subjects and in patients with mucosal injury of the small intestine. J Pediatr 1980;97:389-93.
-
(1980)
J Pediatr
, vol.97
, pp. 389-393
-
-
Lebenthal, E.1
Lee, P.C.2
-
18
-
-
4444368426
-
Method for assay of intestinal disaccharidases
-
Dahlqvist A. Method for assay of intestinal disaccharidases. Analy Biochem 1964;7:18-25.
-
(1964)
Analy Biochem
, vol.7
, pp. 18-25
-
-
Dahlqvist, A.1
-
20
-
-
0000681928
-
C. Functional bowel disorders and D, functional abdominal pain
-
Drossman DA, Corazziari E, Talley NJ, Thompson WG, Whitehead WE, eds. McLean, VA: Degnon Associates
-
Thompson WG, Longstreth G, Drossman DA, et al. C. Functional bowel disorders and D, functional abdominal pain. In: Drossman DA, Corazziari E, Talley NJ, Thompson WG, Whitehead WE, eds. Rome II. The functional gastrointestinal disorders. Diagnosis, pathophysiology and treatment: A multinational consensus. McLean, VA: Degnon Associates, 2000:351-432.
-
(2000)
Rome II. The functional gastrointestinal disorders. Diagnosis, pathophysiology and treatment: A multinational consensus
, pp. 351-432
-
-
Thompson, W.G.1
Longstreth, G.2
Drossman, D.A.3
-
21
-
-
0020581555
-
Adult onset sucrase-isomaltase deficiency with secondary disaccharidase deficiency resulting from severe dietary carbohydrate restriction
-
Cooper BT, Scott, Hopkins J. Adult onset sucrase-isomaltase deficiency with secondary disaccharidase deficiency resulting from severe dietary carbohydrate restriction. Dig Dis Sci 1983;28:473-7.
-
(1983)
Dig Dis Sci
, vol.28
, pp. 473-477
-
-
Cooper, B.T.1
Scott2
Hopkins, J.3
-
22
-
-
0018852806
-
Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood
-
Ringrose RE, Preiser H, Welsh JD. Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood. Dig Dis Sci 1980;25:384-7
-
(1980)
Dig Dis Sci
, vol.25
, pp. 384-387
-
-
Ringrose, R.E.1
Preiser, H.2
Welsh, J.D.3
-
23
-
-
0029693922
-
Short-chain fatty acids in the human colon: Relation to gastrointestinal health and disease
-
Mortensen PB, Clausen MR. Short-chain fatty acids in the human colon: relation to gastrointestinal health and disease. Scand J Gastroenter Suppl 1996;216:132-48.
-
(1996)
Scand J Gastroenter Suppl
, vol.216
, pp. 132-148
-
-
Mortensen, P.B.1
Clausen, M.R.2
-
24
-
-
0015864995
-
Congenital maltase-sucrase and maltase-isomaltase deficiency in an adult
-
Mainguet P, Vanderhoeden R. Loeb H, Eggermont E. Congenital maltase-sucrase and maltase-isomaltase deficiency in an adult. Digestion 1973;8:353-9.
-
(1973)
Digestion
, vol.8
, pp. 353-359
-
-
Mainguet, P.1
Vanderhoeden, R.2
Loeb, H.3
Eggermont, E.4
-
25
-
-
0014546338
-
The sedimentation properties of the intestinal α-glucosidases of normal human subjects and of patients with sucrose intolerance
-
Eggermont E, Hers HG. The sedimentation properties of the intestinal α-glucosidases of normal human subjects and of patients with sucrose intolerance. Eur J Biochem 1969;9:488-96.
-
(1969)
Eur J Biochem
, vol.9
, pp. 488-496
-
-
Eggermont, E.1
Hers, H.G.2
-
26
-
-
0022909250
-
Maltase-glucoamylase and residual isomaltase in sucrose intolerant patients
-
Skovbjerg H, Krasilnikoff PA. Maltase-glucoamylase and residual isomaltase in sucrose intolerant patients. J Pediatr Gastroenterol Nutr 1986;5:365-71.
-
(1986)
J Pediatr Gastroenterol Nutr
, vol.5
, pp. 365-371
-
-
Skovbjerg, H.1
Krasilnikoff, P.A.2
-
27
-
-
0029898558
-
Clinical heterogeneity in congenital sucrase-isomaltase deficiency
-
Treem WR. Clinical heterogeneity in congenital sucrase-isomaltase deficiency. J Pediatr 1996;128:727-9.
-
(1996)
J Pediatr
, vol.128
, pp. 727-729
-
-
Treem, W.R.1
|