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Article

Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.

Journal of pediatric gastroenterology and nutrition - 1 Nov 2012

Naim Hassan Y, Heine Martin, Zimmer Klaus-Peter

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Share to Carbohydrate Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23103643
DOI: 10.1097/01.mpg.0000421402.57633.4b

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Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.PMID 23103643Read ↗

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.Semantic proximity Read ↗

Genetic and acquired sucrase‐isomaltase deficiency: A clinical reviewSemantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.Semantic proximity Read ↗

Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.Semantic proximity Read ↗

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.Semantic proximity Read ↗

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.Semantic proximity Read ↗

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future PerspectivesSemantic proximity Read ↗

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.Semantic proximity Read ↗

Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.Semantic proximity Read ↗

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.Semantic proximity Read ↗

The clinical consequences of sucrase-isomaltase deficiencySemantic proximity Read ↗

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