The population of the Saguenay‐Lac‐Saint‐Jean (SLSJ) region, located in the province of
Quebec, Canada, is recognized as a founder population, where some rare autosomal …

Vitamin D is mainly produced in the skin (cholecalciferol) as result of sun exposure while a
fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further processed …

Vitamin D‐dependent rickets type 1A (VDDR1A) is a rare condition caused by biallelic
pathogenic variants in CYP27B1, which encodes 25‐hydroxyvitamin D3‐1‐α‐hydroxylase …

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused
by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme …

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