Owing to advances in genomics that enable differentiation of molecular aetiologies, patients
with monogenic inflammatory bowel disease (mIBD) potentially have access to genotype …

Genomic medicine enables the identification of patients with rare or ultra-rare monogenic
forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients …

Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel
disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that accumulating 1, 5 …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate
transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene …

Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack
of one or more enzymes involved in the synthesis or degradation of glycogen and are …

Abstract Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA
replication. Here, we describe compound heterozygous MCM10 variants in patients with …

Immune regulation plays a crucial role in human health and disease. Inflammatory bowel
disease (IBD) is a chronic relapse bowel disease with an increasing incidence worldwide …