Results 11 to 20 of about 3,903 (190)

Mannose supplementation in PMM2-CDG [PDF]

Orphanet Journal of Rare Diseases, 2021
In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +5 more
doaj   +3 more sources

Anthropometric Phenotype of Patients with PMM2-CDG [PDF]

Children, 2021
Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Anna Bogdańska, Anna Tylki-Szymańska   +3 more
doaj   +3 more sources

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]

Orphanet Journal of Rare Diseases, 2020
Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG ...
Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +4 more
doaj   +4 more sources

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai   +3 more
doaj   +3 more sources

Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]

Orphanet Journal of Rare Diseases, 2015
Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Artuch, R., Boix, Cristina, Briones, Paz, Carratalá, Francisco, Cuadras, Daniel, De Diego, Victor, Felipe-Rucián, Ana, Fons, Carmen, García-Cazorla, Angels, Girós, Marisa, Gort, Laura, Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica, Jaeken, Jaak, Macaya Ruiz, Alfons, Muchart, Jordi, O'Callaghan, M. Mar, Poo, M. Pilar, Pérez, Belén, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Robles, Bernabé, Serrano, Mercedes, Universitat Autònoma de Barcelona, Velázquez-Fragua, Ramón   +23 more
core   +12 more sources

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2021
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu, S.M. Silvera Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martinez-Duncker, C.G. Asteggiano   +9 more
doaj   +6 more sources

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

Frontiers in Genetics, 2020
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova   +14 more
doaj   +3 more sources

Unsuccessful intravenous D-mannose treatment in PMM2-CDG [PDF]

Orphanet Journal of Rare Diseases, 2019
Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter   +8 more
doaj   +4 more sources

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
ABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +2 more sources