Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization-Reference-Cited by-同舟云学术

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

Published:2017-05 Issue:5 Volume:64 Page:770-776
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology & Nutrition
language:en
Short-container-title:

Author:

Haberman Yael,Di Segni Ayelet,Loberman-Nachum Nurit,Barel Ortal,Kunik Vered,Eyal Eran,Kol Nitzan,Hout-Siloni Goni,Kochavi Brigitte,Avivi Camila,Schvimer Michael,Rechavi Gideon,Anikster Yair,Barshack Iris,Weiss Batia

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology and Child Health

Reference21 articles.

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3. 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 Clin Invest,1996

4. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme;Jacob;J Clin Invest,2000

5. Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder;Spodsberg;J Biol Chem,2001

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3. Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?;European Journal of Medical Genetics;2022-06

4. Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China;Frontiers in Pediatrics;2021-12-02

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