Results 21 to 30 of about 2,105 (164)

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet Journal of Rare Diseases, 2021
Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska   +6 more
doaj   +1 more source

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Orphanet Journal of Rare Diseases, 2018
Background Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of ...
Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira   +8 more
doaj   +1 more source

Congenital disorders of glycosylation: narration of a story through its patents

Orphanet Journal of Rare Diseases, 2023
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of
Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis   +5 more
doaj   +1 more source

Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene [PDF]

Cell Journal, 2021
Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins.
Zahra Tabatabaei, Khadijeh Karbalaie, Parham Habibzadeh, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Mohammad-Hossein Nasr Esfahani   +5 more
doaj   +1 more source

Congenital disorders of glycosylation (CDG): Quo vadis?

European Journal of Medical Genetics, 2018
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families.
Peanne, R., de Lonlay, P., Foulquier, F., Kornak, U., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Morava, E., Perez, B., Seta, N., Thiel, C, van Schaftingen, E., Matthijs, G., Jaeken, J.   +14 more
openaire   +6 more sources

RFT1‐CDG: Deafness as a novel feature of congenital disorders of glycosylation [PDF]

Journal of Inherited Metabolic Disease, 2009
SummaryCongenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N‐glycosylation, in protein O‐glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways ...
Jaeken, J, Vleugels, W, Régal, L, Corchia, C, Goemans, N, Haeuptle, M A, Foulquier, F, Hennet, T, Matthijs, G, Dionisi-Vici, C   +9 more
openaire   +2 more sources

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

BMC Medical Genetics, 2018
Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked ...
Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont   +7 more
doaj   +1 more source

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

Molecular Genetics & Genomic Medicine, 2023
Background Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG.
Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel   +11 more
doaj   +1 more source

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

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Orphanet Journal of Rare Diseases, 2021
Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient.
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz, Eva Morava   +9 more
doaj   +1 more source