Zobrazeno 1 - 10
of 369
pro vyhledávání: '"Gert Matthijs"'
Autor:
Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101057- (2024)
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms,
Externí odkaz:
https://doaj.org/article/6931300d149b424894c7347156a86442
Autor:
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka Zola, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Lukusa Tshilobo, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
eJHaem, Vol 4, Iss 3, Pp 595-601 (2023)
Abstract Background: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to determ
Externí odkaz:
https://doaj.org/article/dab20ddfd3a84212b5cada2b70d7092d
Autor:
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, Aimé Lumaka, Valerie Race, Gert Matthijs, Tite Minga Mikobi, Koenraad Devriendt, Chris Van Geet, Prosper Tshilobo Lukusa
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile
Externí odkaz:
https://doaj.org/article/34f2e67d7afd4d9691ea584959c2579a
Autor:
Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 122-128 (2021)
Abstract Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of g
Externí odkaz:
https://doaj.org/article/fb9480b0400444b79ad09a8a472411f2
Autor:
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, Aimé Lumaka, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Tshilobo Lukusa, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278478 (2022)
BackgroundSickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a unif
Externí odkaz:
https://doaj.org/article/fe73b06b50184c348dbc70de6f338622
Autor:
Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revencu, Xavier Stephénne, Cristina De Castro, Gert Matthijs, Rita Barone, Jaak Jaeken, Domenico Garozzo
Publikováno v:
iScience, Vol 24, Iss 4, Pp 102323- (2021)
Summary: Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan bios
Externí odkaz:
https://doaj.org/article/e93c083c6ca5470c88eb8af2ea72b54c
Autor:
Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100717- (2021)
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosy
Externí odkaz:
https://doaj.org/article/54434bbf08f84d7e9aff993eb7985c64
Autor:
Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability. The risk for a premutation to expand
Externí odkaz:
https://doaj.org/article/ee2f2c458e254a33b8197fa61167a29f
Autor:
Colmant Caroline, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
Publikováno v:
Dermatology Practical & Conceptual, Vol 8, Iss 1 (2018)
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acr
Externí odkaz:
https://doaj.org/article/b3109e52724f49668c5c3125e73dddd1
Autor:
Tite Minga Mikobi, Prosper Lukusa Tshilobo, Michel Ntetani Aloni, Georges Mvumbi Lelo, Pierre Zalagile Akilimali, Jean Jacques Muyembe-Tamfum, Valérie Race, Gert Matthijs, Jean Marie Mbuyi Mwamba
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0123568 (2015)
BackgroundSickle cell anemia is an inflammatory disease and is characterized by chronic hemolysis. We sought to evaluate the association of lactate dehydrogenase levels with specific clinical phenotypes and laboratory variables in patients with sickl
Externí odkaz:
https://doaj.org/article/3baf3175cee449f493cbded23cf7cf69