Disease: Congenital disorder of glycosylation type 2B
- Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
- Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb
- Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction
- Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2
- Glycosylation, hypogammaglobulinemia, and resistance to viral infections
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn(2)
- Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn<sup>2</sup>
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
- Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports