Results 51 to 60 of about 763 (113)

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency: Date of submission: 24-11-2020 | Date of acceptance: 06-05-2021 | Published: 03-10-2021

Portuguese Journal of Pediatrics, 2021
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients.
Pinto Silva, Catarina, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)

Abstract Phosphomannomutase 2 (PMM2) deficiency is the most common congenital disorders of glycosylation (CDG) with an estimated incidence ranging from 1:20,000 to 1:80,000. Patients manifest a broad spectrum of clinical manifestations, with neurological deficits often emerging as the earliest sign, and may progress to severe multi-organ ...
Zhong, M, Lai, K
openaire   +2 more sources

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders. [PDF]

Glob Med Genet, 2023
Finsterer J.
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Hemostatic defects in congenital disorders of glycosylation. [PDF]

Res Pract Thromb Haemost, 2023
Pascreau T, Auditeau C, Borgel D.
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Faculty Opinions recommendation of Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +2 more sources