Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …

Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal
recessive metabolic disorder caused by mutations in genes involved in chylomicron …

(1) Background: Individuals with COVID-19 display different forms of disease severity and
the upper respiratory tract microbiome has been suggested to play a crucial role in the …

Background Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive
disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for …

As part of the worldwide effort to better characterize HLA diversity in populations, we have
studied the population of Québec in Canada. This province has been defined by a complex …

Background We examined the birth outcomes of children with inborn errors of metabolism
detected at birth or later in life. Methods We carried out a retrospective cohort study of 1733 …

Purpose The genetic etiology of amyotrophic lateral sclerosis (ALS) includes few rare, large-
effect variants and potentially many common, small-effect variants per case. The genetic risk …

Abstract Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused
by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age …

Background Familial hypercholesterolemia (FH) is associated with lifelong elevated plasma
concentrations of low-density lipoprotein cholesterol (LDL-C) and high risk of premature …

Abstracts Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by bi-
allelic pathogenic variants in the microsomal triglyceride transfer protein (MTTP) gene. This …