Cargando…

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

PURPOSE: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder characterized by a deficiency of the sucrase-isomaltase (SI) enzyme complex within the brush border membrane of the small intestine. Mutations in the SI gene result in abnormal synthesis and/or incorrect transport of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Smith, Heather, Romero, Beverly, Flood, Emuella, Boney, Anne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298246/ https://www.ncbi.nlm.nih.gov/pubmed/33772704 http://dx.doi.org/10.1007/s11136-021-02819-z

Ejemplares similares

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency
por: Husein, Diab M., et al.
Publicado: (2020)

The clinical consequences of sucrase-isomaltase deficiency
por: Cohen, Stanley A.
Publicado: (2016)

Adult sucrase-isomaltase deficiency masquerading as IBS
por: Foley, Anna, et al.
Publicado: (2022)

Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
por: Belmont, John W, et al.
Publicado: (2002)

Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children
por: Geng, Lanlan, et al.
Publicado: (2014)

The multiple roles of sucrase-isomaltase in the intestinal physiology
por: Gericke, Birthe, et al.
Publicado: (2016)

Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female
por: Chiruvella, Varsha, et al.
Publicado: (2021)

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency
por: Husein, Diab M., et al.
Publicado: (2019)

Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
por: Zhou, Jianli, et al.
Publicado: (2021)

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives
por: Senftleber, Ninna Karsbæk, et al.
Publicado: (2023)

The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences: protocol for a dietary intervention study
por: Senftleber, Ninna Karsbæk, et al.
Publicado: (2023)

Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
por: Henström, Maria, et al.
Publicado: (2018)

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients
por: Garcia-Etxebarria, Koldo, et al.
Publicado: (2018)

The posttranslational processing of sucrase-isomaltase in HT-29 cells is a function of their state of enterocytic differentiation
Publicado: (1987)

Localization of intestinal sucrase-isomaltase complex on the microvillous membrane by electron microscopy using nonlabeled antibodies
por: Nishi, Y, et al.
Publicado: (1978)

Indirect Chronic Effects of an Oleuropein-Rich Olive Leaf Extract on Sucrase-Isomaltase In Vitro and In Vivo
por: Pyner, Alison, et al.
Publicado: (2019)

Lawsonia intracellularis infected enterocytes lack sucrase-isomaltase which contributes to reduced pig digestive capacity
por: Helm, Emma T., et al.
Publicado: (2021)

Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition
por: Thingholm, Louise, et al.
Publicado: (2019)

Reduced efficacy of low FODMAPs diet in patients with IBS-D carrying sucrase-isomaltase (SI) hypomorphic variants
por: Zheng, Tenghao, et al.
Publicado: (2020)

Staphylococcus aureus Infection Influences the Function of Intestinal Cells by Altering the Lipid Raft-Dependent Sorting of Sucrase–Isomaltase
por: Mergani, AhmedElmontaser, et al.
Publicado: (2021)

Theoretical Studies for the Discovery of Potential Sucrase-Isomaltase Inhibitors from Maize Silk Phytochemicals: An Approach to Treatment of Type 2 Diabetes
por: Landeros-Martínez, Linda-Lucila, et al.
Publicado: (2023)

Prediction of hyaluronic acid target on sucrase-isomaltase (SI) with reverse docking and molecular dynamics simulations for inhibitors binding to SI
por: Li, Xiao, et al.
Publicado: (2021)

Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit [published erratum appears in J Cell Biol 1991 Dec;115(5):following 1473]
Publicado: (1991)

Impaired cell surface expression and digestive function of sucrase-isomaltase gene variants are associated with reduced efficacy of low FODMAPs diet in patients with IBS-D
por: Husein, Diab M, et al.
Publicado: (2020)

Interaction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestion
por: Tannous, Stephanie, et al.
Publicado: (2023)

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs)
por: Grieco, Joseph C., et al.
Publicado: (2018)

Engineering a branching sucrase for flavonoid glucoside diversification
por: Malbert, Yannick, et al.
Publicado: (2018)

Real-World Patient Experience on the Path to Diagnosis of Ankylosing Spondylitis
por: Ogdie, Alexis, et al.
Publicado: (2019)

ChREBP deficiency prevents high sucrose diet-induced obesity through reducing sucrase expression
por: Sakiyama, Haruhiko, et al.
Publicado: (2022)

Glucagon-like Peptide-1 Receptor Agonist Treatment Attributes Important to Injection-Naïve Patients with Type 2 Diabetes Mellitus: A Multinational Preference Study
por: Qin, Lei, et al.
Publicado: (2017)

Glucagon-Like Peptide-1 Receptor Agonist Treatment Attributes Important to Injection-Experienced Patients with Type 2 Diabetes Mellitus: A Preference Study in Germany and the United Kingdom
por: Qin, Lei, et al.
Publicado: (2017)

Patient perspectives on the pathway to psoriatic arthritis diagnosis: results from a web-based survey of patients in the United States
por: Ogdie, Alexis, et al.
Publicado: (2020)

Development of the pediatric daily ulcerative colitis signs and symptoms scale (DUCS): qualitative research findings
por: Flood, Emuella, et al.
Publicado: (2017)

A New Sucrase Enzyme Inhibitor from Azadirachta indica
por: Abdelhady, Mohamed I. S., et al.
Publicado: (2016)

Characterization of Maltase and Sucrase Inhibitory Constituents from Rhodiola crenulata
por: Li, Wen-Tai, et al.
Publicado: (2019)

Similarities and differences in the biochemical and enzymological properties of the four isomaltases from Saccharomyces cerevisiae
por: Deng, Xu, et al.
Publicado: (2014)

Intestinal Sucrase as a Novel Target Contributing to the Regulation of Glycemia by Prebiotics
por: Neyrinck, Audrey M., et al.
Publicado: (2016)

Purification and Characterization of a Novel Intracellular Sucrase Enzyme of Leishmania donovani Promastigotes
por: Singh, Arpita, et al.
Publicado: (2016)

Increased Expression of Sucrase and Intestinal‐type Alkaline Phosphatase in Human Gastric Carcinomas with Progression
por: Nakamura, Wataru, et al.
Publicado: (1998)

The patient journey to diagnosis and treatment of autoinflammatory diseases
por: Hausmann, Jonathan S., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_d1ib5ukl54o8u9b4hvoq3incod