Results 11 to 20 of about 400,864 (202)

Low Incidence of Cancer Recorded in the Galapagos Archipelago. [PDF]

Cancer Rep (Hoboken)
ABSTRACT Background Cancer incidence in the Galapagos archipelago is unknown. Aim In 2021, a task force including Ecuadorian and Italian researchers was established to estimate cancer incidence among the 25 244 Galapagos residents. Methods Registration covered all malignancies, including malignant melanoma and non‐melanoma skin cancers; case recording ...
Chisesi SN, Rugge M, Galli GR, Manni M, Delgado VML, Chisesi T, Ruiz JC, Briones RMQ, Siculella L, Guzzinati S, Zorzi M, Federico M, Iannone A.   +12 more
europepmc   +2 more sources

¿Qué hacer con el pasado? Tiempo, memoria e historia en los debates contemporáneos en México en torno a la estatua de Cristóbal Colón

Historia y grafia, 2023
El artículo intenta ser una reflexión en torno a la fecundidad heurística de la idea de “pasado práctico” y de su distinción del “pasado histórico” (Oakeshott y Hayden White).
Aurelia Valero, Nora Rabotnikof
openalex   +3 more sources

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease. [PDF]

Orphanet J Rare Dis
Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related ...
de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A.   +17 more
europepmc   +2 more sources

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

Frontiers in Pediatrics, 2022
Introduction Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
D. Rodrigues, M. D. de Castro, P. Crujeiras, A. Duat-Rodríguez, A. Marco, M. del Toro, M. Couce, C. Colón   +7 more
semanticscholar   +1 more source

Plasma Proteomic Analysis in Morquio A Disease

International Journal of Molecular Sciences, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding the enzymeN-acetylgalactosamine-6-sulfate sulfatase (GALNS), and is characterized by systemic skeletal dysplasia due to excessive storage of keratan ...
J. V. Alvarez, S. Bravo, M. P. Chantada-Vázquez, Sofía Barbosa-Gouveia, C. Colón, O. López-Suárez, S. Tomatsu, F. Otero-Espinar, M. Couce   +8 more
semanticscholar   +1 more source

IMPORTANCIA DE LA REALIDAD VIRTUAL EN EL PROCESO ENSEÑANZA-APRENDIZAJE, EN NIVEL BÁSICO (PREESCOLAR), CASO DE ESTUDIO “CRISTÓBAL COLÓN”

Revista NeyArt, 2023
El presente proyecto de investigación titulado” La importancia de la Realidad Virtual en el proceso enseñanza- aprendizaje, en nivel básico (Preescolar), Caso de Estudio Cristóbal Colón, tiene como objetivo general comprender la importancia de la ...
Brenda López Martínez, Fátima Yaraset Mendoza Montero, Ricardo García Parada, María Eugenia Astrid Macías Sagarminaga, Yearim Medina Molina   +4 more
openalex   +3 more sources

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]

Orphanet J Rare Dis
Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass ...
Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P.   +9 more
europepmc   +2 more sources

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II. [PDF]

Int J Mol Sci
Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the targeting signal mannose 6-phosphate in lysosomal acid hydrolases.
Monteagudo-Vilavedra E, Rodrigues D, Vella G, Bravo SB, Pena C, Lopez-Valverde L, Colon C, Sanchez-Pintos P, Otero Espinar FJ, Couce ML, Alvarez JV.   +10 more
europepmc   +2 more sources

Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. [PDF]

Int J Mol Sci
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly ...
Álvarez JV, Bravo SB, Chantada-Vázquez MP, Pena C, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML.   +7 more
europepmc   +2 more sources

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage ...
Víctor J Álvarez, S. Bravo, M. P. Chantada-Vázquez, C. Colón, M. D. de Castro, Montserrat Morales, I. Vitoria, S. Tomatsu, F. Otero-Espinar, M. Couce   +9 more
semanticscholar   +1 more source