Rita Barone

TL;DR: There was clinical evidence of a muscular dystrophy–dystroglycanopathy syndrome, supported by deficient O‐mannosylation by muscle immunohistochemistry, in 3 children from 2 families with a severe neurological phenotype.

TL;DR: The extension of the GLI3 mutation analysis to 24 new GCPS cases is reported, report the identification of 15 novel mutations present in one of the patient'sGLI3 alleles, and postulate that GCPS may be due either to haploinsufficiency resulting from the complete loss of one gene copy or to functional haplo insufficiency related to compromised properties of this transcription factor such as DNA binding and transactivation.

TL;DR: During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid and the plethora of defects that will eventually be identified makes it indispensable to use a simple and straightforward nomenclature for this group of diseases.

TL;DR: It is shown that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I).