Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
about
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.Diagnosing and Treating Intolerance to Carbohydrates in ChildrenAltered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiencyCongenital sucrase-isomaltase deficiency: summary of an evaluation in one family.Keratins modulate colonocyte electrolyte transport via protein mistargeting.Predicting the impact of diet and enzymopathies on human small intestinal epithelial cells.The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.Genetic influences on carbohydrate digestion.Sucrase is an intramolecular chaperone located at the C-terminal end of the sucrase-isomaltase enzyme complex.Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.Structure-function analysis of human sucrase-isomaltase identifies key residues required for catalytic activity.Mosaic pattern of sucrase isomaltase deficiency in two brothers.Defective SI does not hydrolyze Mal
P2860
Q24791336-5B4F05CB-D7C8-4187-AE64-4FB493792A1FQ26765443-D05B2EBD-AA45-4F69-944B-8605BF0C70F5Q28302518-134711B6-E3C8-4AA1-AA86-B0AAC262203BQ34778738-7C0B1534-4523-4E00-B329-8E5B3068954AQ36322258-2D1CB0AD-4E3B-4995-9DA9-C7F381024798Q36908234-769B3708-61BF-428F-B404-AEF5A94B8D36Q37329179-F9D58228-8DFC-42A9-A189-D88615D6B917Q37350095-C7931C4A-D99E-4436-B36D-030F9C1410D3Q38288339-9FA4766D-C294-4732-A52B-E91570C51EAEQ40807856-877E8821-2DC8-4617-9FFC-E78133D6E502Q46363798-7F26305C-17B5-40A4-B80B-F655C980C910Q46878720-AFE43671-59B9-4E78-B5B8-BAE6532A7607Q50289106-523E6349-4250-4749-8E9B-F1E4685F36F6
P2860
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@ast
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@en
type
label
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@ast
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@en
prefLabel
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@ast
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@en
P2093
P2860
P356
P1476
Congenital sucrase-isomaltase ...... f a mutant form of the enzyme.
@en
P2093
P2860
P304
P356
10.1172/JCI9677
P407
P577
2000-07-01T00:00:00Z