Andrew C. Edmondson

TL;DR: A plasma N-glycan assay is developed and validated using flow injection-electrospray ionization-quadrupole time-of-flight mass spectrometry to improve the diagnostic capability for CDG and provides novel biomarkers with diagnostic and potentially therapeutic significance.

TL;DR: It is reported here that a naturally occurring low frequency coding variant in the EL gene (LIPG), glycine-26 to serine (G26S), is significantly more common in African-American individuals with elevated HDL cholesterol (HDL-C) levels, and that carriers of the G26S variant had significantly reduced plasma levels of EL protein.

TL;DR: The cases of two siblings born 3 years apart with prenatal findings including facial dysmorphia, oligohydramnios, intrauterine growth restriction, and premature delivery are reported, extending the understanding of the severe end of the phenotypic spectrum of ECHS1 deficiency and clarifying the range of biochemical abnormalities associated with this new disorder.

TL;DR: It is demonstrated that gene-based interaction tests are more powerful than SNP-based tests when more than two variants interact with each other; moreover, tests that incorporate external LD information are generally morepowerful than those that use genotyped markers only.

TL;DR: This group of international experts suggests diagnostic, follow‐up, and management guidelines for PGM1‐CDG based on the best available evidence‐based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of patients.