Raquel Yahyaoui
Overview
Explore the profile of Raquel Yahyaoui including associated specialties, affiliations and a list of published articles.
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29
Citations
525
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Recent Articles
1.
Diaz-Santiago E, Moya-Garcia A, Perez-Garcia J, Yahyaoui R, Orengo C, Pazos F, et al.
Front Pharmacol
. 2025 Feb;
15:1470931.
PMID: 39911831
Introduction: Most drugs fail during development and there is a clear and unmet need for approaches to better understand mechanistically how drugs exert both their intended and adverse effects. Gaining...
2.
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce M, de Castro Lopez M, et al.
Nutrients
. 2025 Jan;
16(24.
PMID: 39770929
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease)....
3.
El Janahi S, Filali M, Boudar Z, Akhattab A, Jaoudi R, Al Idrissi N, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728400
Methods: A retrospective investigation was carried out to examine the outcomes of NBS in Casablanca, Morocco. A total of 5511 newborn blood samples were collected via heel-prick sampling and tested...
4.
la Marca G, Carling R, Moat S, Yahyaoui R, Ranieri E, Bonham J, et al.
Int J Neonatal Screen
. 2023 Mar;
9(1).
PMID: 36975853
In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA....
5.
Soriano-Sexto A, Gallego D, Leal F, Castejon-Fernandez N, Navarrete R, Alcaide P, et al.
Int J Mol Sci
. 2022 Nov;
23(21).
PMID: 36361642
Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed...
6.
Diaz-Santiago E, Claros M, Yahyaoui R, de Diego-Otero Y, Calvo R, Hoenicka J, et al.
Front Mol Biosci
. 2021 May;
8:635074.
PMID: 34046427
Neuromuscular disorders (NMDs) represent an important subset of rare diseases associated with elevated morbidity and mortality whose diagnosis can take years. Here we present a novel approach using systems biology...
7.
Loeber J, Platis D, Zetterstrom R, Almashanu S, Boemer F, Bonham J, et al.
Int J Neonatal Screen
. 2021 Apr;
7(1).
PMID: 33808002
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late...
8.
Sadik I, Perez de Algaba I, Jimenez R, Benito C, Blasco-Alonso J, Caro P, et al.
Int J Neonatal Screen
. 2020 Oct;
5(3):32.
PMID: 33072991
Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin...
9.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marin M, Benito C, Serrano-Nieto J, Gonzalez-Gallego I, et al.
Genes (Basel)
. 2020 Sep;
11(9).
PMID: 32872442
Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening...
10.
Gallego D, Leal F, Gamez A, Castro M, Navarrete R, Sanchez-Lijarcio O, et al.
Hum Mutat
. 2020 Apr;
41(7):1329-1338.
PMID: 32333439
Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved...