Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management-Reference-Cited by-同舟云学术

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

Published:2023-11 Issue:3 Volume:140 Page:107674
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wicker Camille,Roux Charles-Joris,Goujon Louise,de Feraudy Yvan,Hully Marie,Brassier Anais,Bérat Claire-Marine,Chemaly Nicole,Wiedemann Arnaud,Damaj Lena,Abi-Warde Marie-Thérèse,Dobbelaere Dries,Roubertie Agathe,Cano Aline,Arion Alina,Kaminska Anna,Da Costa Sabrina,Bruneel Arnaud,Vuillaumier-Barrot Sandrine,Boddaert Nathalie,Pascreau Tiffany,Borgel Delphine,Kossorotoff Manoelle,Harroche Annie,de Lonlay P.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up;Altassan;J. Inherit. Metab. Dis.,2019

2. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature;Schiff;J. Med. Genet.,2017

3. What is new in CDG?;Jaeken;J. Inherit. Metab. Dis.,2017

4. Congenital disorders of glycosylation (CDG): Quo vadis?;Péanne;Eur. J. Med. Genet.,2018

5. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. [published online ahead of print May 9, 2023];De Graef;Mol. Genet. Metab.,2023

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases;Molecular Genetics and Metabolism;2024-09

2. Coagulation abnormalities and vascular complications are common in PGM1-CDG;Molecular Genetics and Metabolism;2024-08

3. Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake;Clinica Chimica Acta;2023-11