Results 31 to 40 of about 1,300 (164)

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community [PDF]

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira   +10 more
doaj   +3 more sources

Genotype-Phenotype Correlations in PMM2-CDG. [PDF]

Genes (Basel), 2021
PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P.   +7 more
europepmc   +5 more sources

PMM2-CDG and nephrotic syndrome: A case report. [PDF]

Clin Case Rep, 2022
CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic ...
Banderali G, Salvatici E, Rovelli V, Jaeken J.   +3 more
europepmc   +7 more sources

Recurrent fetal truncus arteriosus associated with PMM2-CDG. [PDF]

JIMD Rep, 2021
Malheiro F, Silva M, Macedo C, Ramalho C.   +3 more
europepmc   +4 more sources

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) [PDF]

Orphanet Journal of Rare Diseases, 2017
Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium   +11 more
doaj   +2 more sources

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. [PDF]

Genes (Basel), 2023
Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T.   +12 more
europepmc   +3 more sources

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review [PDF]

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +3 more sources

PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]

精准医学杂志, 2023
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj   +1 more source

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. [PDF]

Ann Neurol, 2021
ObjectiveEpalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We evaluated the genetic, biochemical, and clinical characteristics, including the Nijmegen Progression CDG Rating Scale (
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E.   +25 more
europepmc   +5 more sources

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations.
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +6 more sources