Mannose Phosphate Isomerase Deficiency-Congenital Disorder of Glycosylation (MPI-CDG) Type 1b: Familial Case of Thrombophilia and Liver Disorder

Authors

Sandrine Vuillaumier Barrot
Ivana Dabaj (ORCID: https://orcid.org/0000-0002-2324-1208)
Franklin Ducatez (ORCID: https://orcid.org/0000-0002-8556-7270)
G. Sauvêtre
Elisa Minacori

Institutions

Inserm (FR)
Université Paris Cité (FR)
Assistance Publique – Hôpitaux de Paris (FR)
Normandie Université (FR)
Centre Hospitalier Universitaire de Rouen (FR)
Université de Rouen Normandie (FR)

Publication Details

Journal: Clinical Chemistry
Published: 2025-04-01
DOI: https://doi.org/10.1093/clinchem/hvaf009
Primary Topic: Glycosylation and Glycoproteins Research
Type: article
Field-Weighted Citation Impact: 0.00

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article

Mannose Phosphate Isomerase Deficiency-Congenital Disorder of Glycosylation (MPI-CDG) Type 1b: Familial Case of Thrombophilia and Liver Disorder

Sandrine Vuillaumier Barrot, Ivana Dabaj, Franklin Ducatez, G. Sauvêtre et al.

Apr 1, 2025

Clinical Chemistry

Glycosylation and Glycoproteins Research

article

Mannose Phosphate Isomerase Deficiency-Congenital Disorder of Glycosylation (MPI-CDG) Type 1b: Familial Case of Thrombophilia and Liver Disorder

Sandrine Vuillaumier Barrot, Ivana Dabaj, Franklin Ducatez, G. Sauvêtre, Elisa Minacori

April 1, 2025article en

Abstract

No abstract available for this paper.

Clinical ChemistryVol. 71(4)

Inserm (FR), Université Paris Cité (FR), Assistance Publique – Hôpitaux de Paris (FR), Normandie Université (FR), Centre Hospitalier Universitaire de Rouen (FR), Université de Rouen Normandie (FR)

Openalex Percentile: Top 94%

Glycosylation and Glycoproteins Research

DOI Source OpenAlex

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Mannose Phosphate Isomerase Deficiency-Congenital Disorder of Glycosylation (MPI-CDG) Type 1b: Familial Case of Thrombophilia and Liver Disorder — Sandrine Vuillaumier Barrot, Ivana Dabaj, et al. · Clinical Chemistry (2025) | TGRS Research Map | TGRS