Fatima Leal
Overview
Explore the profile of Fatima Leal including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
111
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0
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Recent Articles
1.
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...
2.
Martinez-Pizarro A, Leal F, Holm L, Doktor T, Petersen U, Bueno M, et al.
Nucleic Acid Ther
. 2022 Jul;
32(5):378-390.
PMID: 35833796
We report two new 6-pyruvoyl-tetrahydropterin synthase splicing variants identified through genomic sequencing and transcript analysis in a patient with tetrahydrobiopterin deficiency, presenting with hyperphenylalaninemia and monoamine neurotransmitter deficiency. Variant c.243 ...
3.
Segovia-Falquina C, Vilas A, Leal F, Del Cano-Ochoa F, Kirk E, Ugarte M, et al.
Hum Mutat
. 2022 Jul;
43(10):1430-1442.
PMID: 35789514
Different strategies are being investigated for treating PMM2-CDG, the most common congenital disorder of glycosylation. The use of pharmacochaperones (PCs) is one of the most promising. The present work characterizes...
4.
Alcaide P, Ferrer-Lopez I, Gutierrez L, Leal F, Martin-Hernandez E, Quijada-Fraile P, et al.
J Clin Med
. 2022 May;
11(10).
PMID: 35629059
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in...
5.
Dura M, Sanchez-Garcia A, Saez C, Leal F, Chis A, Gonzalez-Velez H, et al.
Stud Health Technol Inform
. 2022 May;
294:755-759.
PMID: 35612198
The pharmaceutical industry is a data-intensive environment and a heavily-regulated sector, where exhaustive audits and inspections are performed to ensure the safety of drugs. In this context, processing and evaluating...
6.
Sanchez-Lijarcio O, Yubero D, Leal F, Couce M, Gutierrez-Solana L, Lopez-Laso E, et al.
Clin Genet
. 2022 Apr;
102(1):40-55.
PMID: 35388452
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier....
7.
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...
8.
Navarrete R, Leal F, Vega A, Morais-Lopez A, Garcia-Silva M, Martin-Hernandez E, et al.
Eur J Hum Genet
. 2019 Jan;
27(4):556-562.
PMID: 30626930
The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program....
9.
Brasil S, Leal F, Vega A, Navarrete R, Ecay M, Desviat L, et al.
Orphanet J Rare Dis
. 2018 Jul;
13(1):125.
PMID: 30041674
Background: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing...
10.
Dahri S, Desviat L, Perez B, Leal F, Ugarte M, Chabraoui L
Clin Biochem
. 2009 Sep;
43(1-2):76-81.
PMID: 19786003
Objective: The knowledge of the molecular basis of the Phenylketonuria (PKU, MIM# 261600) in different countries provides relevant information for undertaking specific and rational mutation detection strategies in each population...