Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

(2015) Emma Tham et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

(2014) Rita Barone et al.   JOURNAL OF NEUROLOGY

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

(2014) Marie-Lorraine Monin et al.   Orphanet Journal of Rare Diseases

ALG1-CDG: A new case with early fatal outcome

(2013) A.-K. Rohlfing et al.   GENE

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

(2012) E. Morava et al.   PEDIATRICS

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

(2010) T. Dupre et al.   JOURNAL OF MEDICAL GENETICS

Characterizing protein glycosylation sites through higher-energy C-trap dissociation

(2010) Zaneer M. Segu et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

(2009) W. Vleugels et al.   GLYCOBIOLOGY