GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Thrombosis in paroxysmal nocturnal hemoglobinuria

(2013) A. Hill et al.   BLOOD

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Thrombotic complications in patients with PMM2-CDG

(2013) M. Linssen et al.   MOLECULAR GENETICS AND METABOLISM

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Paroxysmal nocturnal hemoglobinuria and other complement-mediated hematological disorders

(2012) Antonio M. Risitano   IMMUNOBIOLOGY

Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia

(2012) M. E. DE LA MORENA-BARRIO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Congenital disorders of glycosylation

(2011) Miranda Theodore et al.   CURRENT OPINION IN PEDIATRICS

Epitope mapping, expression and post-translational modifications of two isoforms of CD33 (CD33M and CD33m) on lymphoid and myeloid human cells

(2011) A. B. Perez-Oliva et al.   GLYCOBIOLOGY

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

Diagnóstico y tratamiento de la hemoglobinuria paroxística nocturna

(2010) Alvaro Urbano-Ispizua et al.   MEDICINA CLINICA

Inherited glycosylphosphatidyl inositol deficiency: A treatable CDG

(2009) Antonio Almeida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

(2009) Ester Quintana et al.   CLINICAL BIOCHEMISTRY

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

(2009) Micha A. Haeuptle et al.   HUMAN MUTATION

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

(2008) J.B. Arnoux et al.   MOLECULAR GENETICS AND METABOLISM