Results 31 to 40 of about 11,049 (200)

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. [PDF]

J Inherit Metab Dis, 2023
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD.   +19 more
europepmc   +3 more sources

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation [PDF]

, 2011
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children.
van Reeuwijk, Jeroen, Schuurs-Hoeijmakers, Janneke H. M., Lehle Ludwig, Schuurs-Hoeijmakers, J.H., Lorber, A., Lorber, Avraham, Zucker, N., Janneke H M Schuurs-Hoeijmakers, Zucker Nili, Grünewald Stephanie, de Brouwer Arjan P. M., Wevers, R.A., Steenbergen, Gerry, Lefeber, D.J., Steenbergen, G.C., Lammens, M.M.Y., Ron A Wevers, Adam Jozwiak, Schuurs-Hoeijmakers, Janneke H M, Wevers, Ron A., Huijben, K., Grunewald, S., Lefeber, Dirk J, Gruenewald, Stephanie, Wevers, Ron A, Willem M R van den Akker, van den Akker, Willem M. R., de Brouwer, Arjan P. M., van Bokhoven, H., Steenbergen Gerry, Hanna Mandel, Riemersma Moniek, Riemersma, Moniek, Gerry Steenbergen, Riemersma, M., Stephanie Grünewald, Lammens, Martin, Dirk J Lefeber, Eva Morava, Absmanner, B., Morava Eva, Verrijp, K., Knopf, Carlos, Verrijp, Kiek, Knopf, C., van Bokhoven, Hans, Brouwer, A.P.M. de, van den Akker Willem M. R., Nili Zucker, Jeroen van Reeuwijk, Mandel, H., Lammens Martin, Martin Lammens, Jozwiak, Adam, Carlos Knopf, de Brouwer, A.P., Absmanner, Birgit, Mandel Hanna, Hans van Bokhoven, Reeuwijk, J. van, Jozwiak, A., Ludwig Lehle, Schuurs-Hoeijmakers Janneke H. M., Lehle, Ludwig, Lorber Avraham, Huijben Karin, van Reeuwijk, J., Zucker, Nili, Hijben, K., van den Akker, Willem M R, Birgit Absmanner, Absmanner Birgit, Avraham Lorber, Steenbergen, G., Huijben, Karin, Wevers Ron A., Mandel, Hanna, Knopf Carlos, Kapusta, Livia, Lefeber, Dirk J., Livia Kapusta, Verrijp Kiek, van den Akker, W.M., Grunewald, Stephanie, van Bokhoven Hans, Morava, E., Akker, W.M.R. van den, Moniek Riemersma, Bokhoven, H. van, Lefeber Dirk J., Jozwiak Adam, Lehle, L., Kapusta, L., Lammens, M., van Reeuwijk Jeroen, Karin Huijben, Schuurs-Hoeijmakers, J.H.M., Morava, Eva, Kapusta Livia, Arjan P M de Brouwer, Kiek Verrijp   +100 more
core   +1 more source

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
core   +1 more source

Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology

Frontiers in Pediatrics, 2015
Protein glycosylation is an important epigenetic modifying process affecting expression, localization, and function of numerous proteins required for normal immune function.
Jonathan J Lyons, Joshua eMilner, Sergio eRosenzweig   +2 more
doaj   +1 more source

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review [PDF]

, 2018
Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects.
Marques-da-Silva, Dorinda, dos Reis Ferreira, V, Jaeken, J., Gole, Glen A., Francisco, Rita, Rita Francisco, Jaeken, Jaak, Coman, D, Francisco, R, Pascoal, C, Francisco, R., Morava, E., Gole, G. A., Coman, D., Dorinda Marques‐da‐Silva, Morava, E, Carlota Pascoal, Glen A. Gole, Pascoal, C., Marques-da-Silva, D, Coman, David, Eva Morava, David Coman, Jaak Jaeken, Pascoal, Carlota, Morava, Eva, Marques-da-Silva, D., Dos Reis Ferreira, Vanessa, Vanessa dos Reis Ferreira, Jaeken, J, Gole, GA   +30 more
core   +1 more source

Table1_Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.pdf [PDF]

, 2022
N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features.
Dorota Wesół-Kucharska (14249348), Aleksandra Jezela-Stanek (3862963), Dariusz Rokicki (3585620), Agata Rawiak (14249354), Magdalena Kaczor (14249351), Milena Greczan (14249345)   +5 more
core   +1 more source

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

High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation [PDF]

, 2018
High-resolution capillary zone electrophoresis is used to assess the transferrin profile in serum of patients with eight different congenital disorders of glycosylation that represent type I, type II, and mixed type I/II disorders.
Burda, Patricie, Jitka Caslavska, Tobler, Micha, Caslavska, Jitka, Thormann, Wolfgang, Patricie Burda, Thormann, Wolfgang; https://orcid.org/, Caslavsky, Jitka, Micha Tobler, Wolfgang Thormann   +9 more
core   +1 more source

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

Biomedicines, 2023
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation.
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič   +13 more
doaj   +1 more source

Underdiagnosis of mild congenital disorders of glycosylation type Ia [PDF]

, 2005
International audienceCongenital disorders of glycosylation-Ia are the most frequent type of congenital disorders of glycosylation. This condition affects the nervous system as well as other organs.
Giurgea, Irina, de Lonlay, Pascale, Le Merrer, Martine, Michel, Anne, Seta, Nathalie   +4 more
core   +1 more source