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14 in total

1. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

Authors: E Schollen; S Kjaergaard; E Legius; M Schwartz; G Matthijs
Journal: Eur J Hum Genet Date: 2000-05 Impact factor: 4.246

2. The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Authors: B Pérez; P Briones; D Quelhas; R Artuch; A I Vega; E Quintana; L Gort; M J Ecay; G Matthijs; M Ugarte; C Pérez-Cerdá
Journal: JIMD Rep Date: 2011-06-22

3. Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

Authors: M Pirard; G Matthijs; L Heykants; E Schollen; S Grünewald; J Jaeken; E van Schaftingen
Journal: FEBS Lett Date: 1999-06-11 Impact factor: 4.124

4. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Authors: G Matthijs; E Schollen; E Van Schaftingen; J J Cassiman; J Jaeken
Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025

5. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.

Authors: E Schollen; S Kjaergaard; T Martinsson; S Vuillaumier-Barrot; M Dunoe; L Keldermans; N Seta; G Matthijs
Journal: J Med Genet Date: 2004-11 Impact factor: 6.318

Review 6. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Authors: Stephanie Grünewald
Journal: Biochim Biophys Acta Date: 2009-01-14

Review 7. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Authors: Micha A Haeuptle; Thierry Hennet
Journal: Hum Mutat Date: 2009-12 Impact factor: 4.878

8. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

Authors: S Kjaergaard; F Skovby; M Schwartz
Journal: Eur J Hum Genet Date: 1998 Jul-Aug Impact factor: 4.246

9. Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Authors: G Matthijs; E Schollen; J J Cassiman; V Cormier-Daire; J Jaeken; E van Schaftingen
Journal: Eur J Hum Genet Date: 1998 Mar-Apr Impact factor: 4.246

10. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors: E Van Schaftingen; J Jaeken
Journal: FEBS Lett Date: 1995-12-27 Impact factor: 4.124

1 in total

1. In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.

Authors: Bogdan Doroftei; Loredana Nemtanu; Ovidiu-Dumitru Ilie; Gabriela Simionescu; Iuliu Ivanov; Emil Anton; Maria Puiu; Radu Maftei
Journal: Genes (Basel) Date: 2020-06-25 Impact factor: 4.096

1 in total