Rare Diseases

Current bibliography for experts

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CSID

Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking

2022-11-01

This study provides novel insights into the potential role of heterozygosity in the pathophysiology of congenital sucrase-isomaltase deficiency and irritable bowel syndrome.

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

ALPHA-MANNOSIDOSIS

Long-term outcome of patients with alpha-mannosidosis - A single center study

2021-12-09

The aim of this study was to present the long-term follow-up of 12 Polish patients with alpha-mannosidosis (AM), evaluate the clinical, biochemical, and molecular findings and progression of the disease.

CSID

Two Novel Mutations in the SI Gene Associated with Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

2021-12-09

This article reports a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.

CSID

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

2021-08-01

This study sought to better understand the experience of patients with congenital sucraseisomaltase deficiency (CSID) prior to, during, and after their diagnosis and its subsequent treatment with sacrosidase.

CSID

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome

2020-12-22

In genetic screening of IBS patients, it is discovered that rare sucrase-isomaltase (SI) gene variants are associated with IBS. The findings of this article emphasize the importance of screening for SI mutations in IBS patients and considering enzyme replacement therapy as an appropriate treatment option, similar to CSID.

CSID

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

2019-09-25

In this study, heterozygote mutation carriers in CSID were proposed as a new entity, possibly presenting with milder symptoms. It is suggested that the heterozygote mutants may affect the disease development and treatment.

CSID

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients

2018-10-01

This study aims to determine if (dys-)functional SI variants which causes CSID, are associated with IBS risk. The results provide further evidence about the association of rare functionally deleterious SI variations and IBS susceptibility. Further study is needed on the SI rare pathogenic variant (SI-RPV) prevalence in IBS patients.

CSID

Functional variants in the sucrase isomaltase gene associate with increased risk of irritable bowel syndrome

2018-02-01

In this study, sucrase–isomaltase (SI) gene variants were investigated for their potential role in IBS. It has been found that SI gene variants encoding disaccharidases with reduced enzymatic activity predispose to IBS.

CSID

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

2017-05-01

The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.

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