Disease: Congenital disorder of glycosylation type 2A
- 0,2An cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures
- BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration
- Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features
- Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism
- Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience
- DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype
- Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines
- El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
- Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- PMM2-CDG
- Roles of the nucleotide sugar transporters (SLC35 family) in health and disease
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I