Accès ouvert
2026
preprint
OpenAlex
Alicia Armentia, Sara Fernández, Blanca Garrido Martín, Ignacio Gonzalez-Rodriguez et autres
Background & Aims: Allergic diseases affect 40% of the world's population, a proportion that is increasing due to various factors associated with environmental and meteorological changes related to global warming. However, little has been written about which specific allergens are causing this …
Accès ouvert
2025
article
OpenAlex
Stephanie Y. Cheng, Noma Abdulrahem, Paul D. W. Eckford, Zofia N. Zysman-Colman et autres
BACKGROUND: Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) programs has improved health outcomes in people with CF (pwCF). NBS programs can vary in specific protocols and genetic variants tested, which may not perform equitably for all infants. The objective …
ca
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Accès ouvert
2024
article
OpenAlex
Bailey Mitchell, Brigitte Bélanger, Taylor Berninger, Sara Fernández et autres
As awareness of the value of genetic counseling services increases, there has been greater recognition of the need to diversify service delivery into different languages. Studies within genetic counseling and related fields have identified complications that can arise from language nonconcordance between …
us, ca
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Accès ouvert
2024
article
OpenAlex
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernández et autres
Mucopolysaccharidosis type 1, or Hurler syndrome (MPS1-H), is a rare lysosomal storage disorder caused by alpha-L-iduronidase enzyme deficiency due to biallelic pathogenic variants in the IDUA gene. MPS1-H is characterized by coarse facies, corneal clouding, intellectual disability, dysostosis multiplex, and hepatosplenomegaly, among …
ca
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Accès ouvert
2020
article
OpenAlex
Ibán Aldecoa, Iván Archilla, Laura Herrero, Felipe Cristóbal Andreo García et autres
No abstract available.
us, es, it, dk, at
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Accès ouvert
2017
conference-abstract
OpenAlex
G. Pouessel, Claire Claverie, Julien Labreuche, Jean‐Marie Renaudin et autres
Introduction: Incidence of anaphylaxis is increasing.Data regarding anaphylaxis mortality are limited, but conflicting.Our objective was to document anaphylaxis mortality rate (deaths per million population), time trends and specificities according to triggers (iatrogenic, venom, food, unknown), age groups, sex and geographical regions (North …
fr, de, ch, at, dk, pt, il, ca, nl, kr, es, gb, it, no, se
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2016
article
OpenAlex
Carmen Puertas, Sara Fernández, Plácido Llaneza
In Brief Nephrogenic adenomas are uncommon benign lesions of the urothelium, with rare urethral location, and the management comprises total resection of the lesion.
es
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Accès ouvert
2007
article
OpenAlex
Alicia Armentia, Fernando Pineda, Sara Fernández
The authors report on five patients who presented with anaphylactoid reactions after drinking grape juice or newly pressed wines. All had positive skin tests for specific IgE antibodies to Hymenoptera.