Platelet Membrane Glycoprofiling in a PMM2-CDG Patient-Reference-Cited by-同舟云学术

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient

Published:2021 Issue: Volume:9 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Papazoglu G.M.¹,Ruiz S.M. Silvera²^ORCID,Salinas R.³^ORCID,Pereira M.I.⁴,Cubilla M.A.¹,Pesaola F.⁵^ORCID,Ghione S.⁶,Ramadán N.⁷,Martinez-Duncker I.³,Asteggiano C.G.⁸^ORCID

Affiliation:

1. Universidad Nacional de Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina

2. Universidad Nacional de Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Universidad Nacional de Córdoba, Argentina

3. Universidad Autónoma del Estado de Morelos, México

4. Laboratorio de Inmunología, Argentina

5. Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Hospital de Niños de la Sma, Argentina

6. Argenlab San Francisco, Argentina

7. Fundación para el Progreso de la Medicina, Argentina

8. Universidad Nacional de Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Universidad Católica de Córdoba, Argentina

Publisher

FapUNIFESP (SciELO)

Subject

Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Perspectives on glycosylation and its congenital disorders;Ng BG;Trends Genet,2018

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

3. Thrombotic complications in patients with PMM2-CDG;Linssen M;Mol Genet Metab,2013

4. Congenital disorders of glycosylation;Jaeken J;Ann N Y Acad Sci,2010

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

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1. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14

2. Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan;Journal of Inborn Errors of Metabolism and Screening;2023

3. Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation;Frontiers in Immunology;2022-05-06