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5 articles related to "Phosphomannomutase 2"

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Articles

Mini Review

Published on 16 Jan 2023

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management

in Pediatric Endocrinology

Congli Chen
Yanmei Sang

Frontiers in Endocrinology

doi 10.3389/fendo.2022.1102307

3,298 views
4 citations

Brief Research Report

Published on 11 Oct 2021

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

in Genetics of Common and Rare Diseases

Mercedes Serrano

Frontiers in Pediatrics

doi 10.3389/fped.2021.717864

5,857 views
12 citations

Review

Published on 14 Mar 2024

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

in Molecular Innate Immunity

Carlota Pascoal
Rita Francisco
Patrícia Mexia
Beatriz Luís Pereira
Pedro Granjo
Helena Coelho
Mariana Barbosa
Vanessa dos Reis Ferreira
Paula Alexandra Videira

Frontiers in Immunology

doi 10.3389/fimmu.2024.1350101

8,114 views
10 citations

Review

Published on 23 Jul 2025

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes

in Pediatric Endocrinology

Giulia Del Medico
Lorenzo Ferri
Elena Procopio
Giosuè Annibalini
Elena Barbieri
Rita Barone
Renzo Guerrini
Amelia Morrone
Stefano Stagi

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1594118

3,053 views

Case Report

Published on 07 Oct 2020

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

in Genetics of Common and Rare Diseases

Katerina Slaba
Hana Noskova
Petra Vesela
Jana Tuckova
Hana Jicinska
Tomas Honzik
Hana Hansikova
Petra Kleiblova
Petr Stourac
Petr Jabandziev

Frontiers in Genetics

doi 10.3389/fgene.2020.561054

7,824 views
4 citations