Work

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

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Chemistry

DOI: 10.1093/clinchem/hvaf009

Authors: Franklin Ducatez, Elisa Minacori, Sandrine Vuillaumier Barrot, Gaëtan Sauvêtre, Ivana Dabaj

Institutions: Inserm, Normandie Université, Université de Rouen Normandie, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Centre de Recherche sur l'Inflammation, Hôpital Bichat-Claude-Bernard, Centre Hospitalier Universitaire de Rouen

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4409141729

FWCI:

Cites: 4

Cited by:

Related to: 10