Detalhe da pesquisa
1.
Proteomics in Inherited Metabolic Disorders.
Int J Mol Sci
; 23(23)2022 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499071
2.
Plasma Proteomic Analysis in Morquio A Disease.
Int J Mol Sci
; 22(11)2021 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200496
3.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Int J Mol Sci
; 22(24)2021 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948281
4.
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Orphanet J Rare Dis
; 19(1): 202, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760795
5.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
Transl Res
; 269: 47-63, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395389
6.
The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria.
Med Clin (Barc)
; 160(9): 385-391, 2023 05 12.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36628809
7.
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.
J Clin Med
; 12(7)2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37048678
8.
Maturity-onset diabetes of the young in a large Portuguese cohort.
Acta Diabetol
; 60(1): 83-91, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208343
9.
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Orphanet J Rare Dis
; 17(1): 105, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246208
10.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
J Clin Med
; 11(10)2022 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628876
11.
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.
Front Pediatr
; 9: 728077, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34513772
12.
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Genes (Basel)
; 12(8)2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440436
13.
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
J Clin Med
; 9(8)2020 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718099
14.
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Genes (Basel)
; 11(9)2020 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32887222
15.
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
J Clin Med
; 8(8)2019 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31434271