Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now
contains 771 entries associated with 552 genes reflecting advances in molecular …

Mitochondria are multifaceted organelles with key roles in anabolic and catabolic
metabolism, bioenergetics, cellular signalling and nutrient sensing, and programmed cell …

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of
rare metabolic diseases. With a clinical history that dates back over 40 years, it was the …

Objective Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by
inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute …

Cellular trafficking is essential to maintain critical biological functions. Mutations in 346
genes, most of them described in the last 5 years, are associated with disorders of cellular …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs,
predominantly the central nervous system. Since treatment for a large number of IMDs is …

Congenital disorders of glycosylation (CDG) are a group of more than 160 inborn errors of
metabolism affecting multiple pathways of protein and lipid glycosylation. Patients present …