Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Elisa Leão Teles"'
Autor:
Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 450-460 (2024)
Abstract Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1‐D by perfo
Externí odkaz:
https://doaj.org/article/75e89c23a1d74a5e915f5192fa93b4ec
Autor:
Augusto Magalhães, Margarida Ribeiro, Jorge Meira, Ana Filipa Moleiro, Esmeralda Rodrigues, Elisa Leão-Teles
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 642-647 (2024)
Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of the enzyme N-acetylgalactosamine-4-sulfatase, responsible for the degradation of dermatan sulfate and chondroitin-4
Externí odkaz:
https://doaj.org/article/95b21d8052b745f59cd52bb8d43ce0a8
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, Sérgio Castro, José Fonseca, Elisa Leão‐Teles
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 129-137 (2023)
Abstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized
Externí odkaz:
https://doaj.org/article/72600adcd1874f669d2872a4b5a0ccc3
Autor:
Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)
Abstract Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochond
Externí odkaz:
https://doaj.org/article/523b6cb7a83a4ea8afe344e06b693799
Autor:
Markey McNutt, George Diaz, Andreas Schulze, Gillian Bubb, Leslie Sloan, Elisa Leão-Teles, Spyros Batzios, Angela Sun, Allison Bannick, Roberto Zori, Gregory Enns
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100009- (2023)
Externí odkaz:
https://doaj.org/article/304fa576c76f4fb79788562572061d7f
Autor:
Augusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, Elisa Leão-Teles, Manuel Falcão, Ângela Carneiro, Fernando Falcão-Reis
Publikováno v:
Case Reports in Ophthalmology, Vol 12, Iss 3, Pp 816-823 (2021)
The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent c
Externí odkaz:
https://doaj.org/article/8980263766a34f539011f01ab104821c
Autor:
Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves, M. Fátima Macedo
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1699 (2023)
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, l
Externí odkaz:
https://doaj.org/article/9e4cc5daa22a4ece9b66e7cefb167977
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:
Susana Silva, Alicia Renedo, Cláudia de Freitas, Mariana Amorim, Helena Machado, Elisa Leão Teles, Maria João Baptista, Veerle Provoost
Publikováno v:
BMJ Open, Vol 11, Iss 3 (2021)
Introduction International policy imperatives for the public and patient involvement in the governance of health data coexist with conflicting cross-border policies on data sharing. This can challenge the planning and implementation of participatory
Externí odkaz:
https://doaj.org/article/421bffa99b3f448ca06b29738e775f25