Sofia Barbosa-Gouveia
Overview
Explore the profile of Sofia Barbosa-Gouveia including associated specialties, affiliations and a list of published articles.
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17
Citations
48
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Recent Articles
1.
Picans-Leis R, Vazquez-Mosquera M, Pereira-Hernandez M, Vizoso-Gonzalez M, Lopez-Valverde L, Barbosa-Gouveia S, et al.
Clin Nutr
. 2024 Dec;
44:178-192.
PMID: 39700709
Background And Aims: Human milk (HM) is the earliest form of extrauterine communication between mother and infant, that could promote early programming. The aim of this study is to look...
2.
Sanchez-Pintos P, Camba-Garea M, Lopez-Pardo B, de Juan J, Boveda M, Barbosa-Gouveia S, et al.
BMC Pediatr
. 2024 Sep;
24(1):620.
PMID: 39350089
Background: The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization...
3.
Vazquez-Agra N, Cruces-Sande A, Barbosa-Gouveia S, Lopez-Paz J, Camafort M, Casariego-Vales E, et al.
Sci Rep
. 2024 Jun;
14(1):14433.
PMID: 38910182
High lipoprotein(a) (Lp(a)) levels are associated with an increased risk of arterial hypertension (AHT) and atherosclerotic cardiovascular disease. However, little is known about the detailed profile of AHT based on...
4.
Couce M, Boveda M, Castineiras D, Vazquez-Mosquera M, Barbosa-Gouveia S, De Castro M, et al.
Orphanet J Rare Dis
. 2024 May;
19(1):202.
PMID: 38760795
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...
5.
Lopez-Valverde L, Vazquez-Mosquera M, Colon-Mejeras C, Bravo S, Barbosa-Gouveia S, Alvarez J, et al.
Transl Res
. 2024 Feb;
269:47-63.
PMID: 38395389
Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical...
6.
Barbosa-Gouveia S, Fernandez-Crespo S, Lazare-Iglesias H, Gonzalez-Quintela A, Vazquez-Agra N, Hermida-Ameijeiras A
J Clin Med
. 2023 Apr;
12(7).
PMID: 37048678
Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1...
7.
Vazquez-Agra N, Fernandez-Crespo S, Marques-Afonso A, Cruces-Sande A, Barbosa-Gouveia S, Martinez-Olmos M, et al.
Med Clin (Barc)
. 2023 Jan;
160(9):385-391.
PMID: 36628809
Introduction And Objectives: Some studies have pointed to a relationship between Phenyketonuria (PKU) and an increased cardiovascular risk (CVR). This study aimed to evaluate the influence of metabolic control on...
8.
Chantada-Vazquez M, Bravo S, Barbosa-Gouveia S, Alvarez J, Couce M
Int J Mol Sci
. 2022 Dec;
23(23).
PMID: 36499071
Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body's metabolism. The clinical phenotype is highly variable and can present at any age,...
9.
Barbosa-Gouveia S, Vazquez-Mosquera M, Gonzalez-Vioque E, Hermida-Ameijeiras A, Sanchez-Pintos P, de Castro M, et al.
J Clin Med
. 2022 May;
11(10).
PMID: 35628876
Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited...
10.
Vazquez-Mosquera M, Gonzalez-Vioque E, Barbosa-Gouveia S, Bellido-Guerrero D, Tejera-Perez C, Martinez-Olmos M, et al.
Orphanet J Rare Dis
. 2022 Mar;
17(1):105.
PMID: 35246208
Background: Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in only...