Results 111 to 120 of about 784 (133)

Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG

Journal of Inherited Metabolic Disease, 2013
AbstractThe congenital disorder of glycosylation, PMM2‐CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2‐CDG, who showed preserved photoreceptor function, but profound deficits of the ‘on‐pathway’ in the retina. This localises the site of early,
Dorothy A, Thompson, Ruth J, Lyons, Isabelle, Russell-Eggitt, Alki, Liasis, Herbert, Jägle, Stephanie, Grünewald   +5 more
openaire   +2 more sources

Sensitivity of transferrin isoform analysis for PMM2-CDG

Molecular Genetics and Metabolism
Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing
Patrica L, Hall, Kris, Liedke, Coleman, Turgeon, Amy, White, Gesele Bentz, Pino, Dawn, Peck, April, Studinski, Dimitar, Gavrilov, Silvia, Tortorelli, Devin, Oglesbee, Dietrich, Matern, Kimiyo, Raymond, Matthew J, Schultz   +12 more
openaire   +2 more sources

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Biochimica Et Biophysica Acta - Molecular Basis of Disease
PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease of variable severity that particularly affects the nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there is no effective treatment.
Alejandra Gamez, Belen Perez
exaly   +5 more sources

Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Molecular Genetics and Metabolism, 2012
Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation.
Mohamed, M., Theodore, M., Claahsen-van der Grinten, H.L., van Herwaarden, A.E., van Herwaarden, A.E., Huijben, K., van Dongen, L., Kouwenberg, D., Lefeber, D.J., Lefeber, D.J., Wevers, R.A., Wevers, R.A., Wevers, R.A., Morava, E., Morava, E.   +14 more
openaire   +3 more sources

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Human mutation, 2018
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic ...
Patricia, Yuste-Checa, Sandra, Brasil, Alejandra, Gámez, Jarl, Underhaug, Lourdes R, Desviat, Magdalena, Ugarte, Celia, Pérez-Cerdá, Aurora, Martinez, Belén, Pérez   +8 more
openaire   +1 more source

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

Molecular Genetics and Metabolism
Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and research, though their use in rare diseases remains limited. In disorders with significant phenotypic variation, selecting appropriate outcome measures is crucial to ensuring the relevance of clinical trials for the patient population ...
Sanne, Verberkmoes, Gina L, Mazza, Andrew C, Edmondson, Fernando, Scaglia, Seishu, Horikoshi, Bryce, Kuschel, Mirian C H, Janssen, Jehan, Mousa, Austin, Larson, Rameen, Shah, Georgia, McDonald, Kyriaki, Sarafoglou, Gerard, Berry, Tamas, Kozicz, Christina, Lam, Eva, Morava   +15 more
openaire   +3 more sources

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG

Neuropediatrics
AbstractThe congenital disorders of glycosylation (CDG) encompass >190 multiorgan disorders with predominantly neurodevelopmental phenotypes with no causative treatment available. The glycoprotein biotinidase (BTD) provides biotin, an essential cofactor for carboxylases in ubiquitous metabolic pathways.
Nastassja Himmelreich, Sven F. Garbade, Jürgen G. Okun, Simone Hengst, Virginia Geiger, Rita Barone, Saskia B. Wortmann, Christian Thiel   +7 more
openaire   +1 more source

PMM2‐CDG and sensorineural hearing loss

Journal of Inherited Metabolic Disease, 2017
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, Deniz Yüksel, Lies Keldermans, Gert Matthijs, Jaak Jaeken   +6 more
openaire   +1 more source

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2016
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez   +8 more
openaire   +1 more source

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches

Molecular Genetics and Metabolism, 2023
Lucie Zdražilová, Tomas Honzik, Gernot Poschet   +2 more
exaly