Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation

A review of the physical features of the fetal alcohol spectrum disorders

(2017) Miguel del Campo et al.   European Journal of Medical Genetics

High levels of latent antithrombin in plasma from patients with antithrombin deficiency

(2017) María de la Morena-Barrio et al.   THROMBOSIS AND HAEMOSTASIS

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

(2016) M. E. de la Morena-Barrio et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

(2016) H. Eugene Hoyme et al.   PEDIATRICS

Ethanol-Induced Impairment in the Biosynthesis of N-Linked Glycosylation

(2013) Michael Welti et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Thrombotic complications in patients with PMM2-CDG

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

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

(2013) Maria E de la Morena-Barrio et al.   Orphanet Journal of Rare Diseases

Alcohol abuse and glycoconjugate metabolism

(2012) Napoleon Waszkiewicz et al.   FOLIA HISTOCHEMICA ET CYTOBIOLOGICA

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

Vertebrate protein glycosylation: diversity, synthesis and function

(2012) Kelley W. Moremen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model

(2011) M. Binkhorst et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

(2011) Ana Isabel Vega et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genesis of teratogen-induced holoprosencephaly in mice

(2010) Robert J. Lipinski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Congenital disorders of glycosylation

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

Screening for OST deficiencies in unsolved CDG-I patients

(2009) Wendy Vleugels et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2009) Ester Quintana et al.   CLINICAL BIOCHEMISTRY

Ethanol induces embryonic malformations by competing for retinaldehyde dehydrogenase activity during vertebrate gastrulation

(2009) H. Kot-Leibovich et al.   Disease Models & Mechanisms

Diophantine analysis complements electrospray-Q-TOF data for structure elucidation of transferrin glycoforms used for clinical diagnosis in human serum and cerebrospinal fluid

(2009) M. Estela del Castillo Busto et al.   PROTEOMICS

Detailed analysis of 22q11.2 with a high density MLPA probe set

(2007) G.R. Jalali et al.   HUMAN MUTATION