Alvaro Hermida
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Explore the profile of Alvaro Hermida including associated specialties, affiliations and a list of published articles.
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10
Citations
54
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Recent Articles
1.
Rocha J, Hermida A, Jones C, Wu Y, Clague G, Rose S, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):338.
PMID: 39267130
Background: Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low bone...
2.
Venegas E, Langeveld S, Ahring K, Benitez R, Desloovere A, Dios E, et al.
Nutrients
. 2024 Aug;
16(16).
PMID: 39203860
A phenylalanine-restricted diet, supplemented with protein substitutes (PSs), remains the cornerstone of phenylketonuria (PKU) management. However, adherence is challenging in adulthood, and data on the nutritional status of early and...
3.
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Whitehall K, Rose S, Clague G, Ahring K, Bilder D, Harding C, et al.
Orphanet J Rare Dis
. 2024 Aug;
19(1):293.
PMID: 39135125
Background: Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers...
4.
Ariceta G, Santos F, Lopez Muniz A, Hermida A, Matoses M, Ventura A, et al.
Clin Kidney J
. 2024 Apr;
17(4):sfae049.
PMID: 38633840
Background: The purpose of this study is to evaluate the effectiveness and safety of switching from immediate-release (IR) to extended-release (ER) cysteamine in patients with nephropathic cystinosis (NC) in Spain....
5.
Rocha J, Ahring K, Bausell H, Bilder D, Harding C, Inwood A, et al.
Nutrients
. 2023 Sep;
15(18).
PMID: 37764724
Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated...
6.
Sanchez R, Ripoll-Vera T, Lopez-Mendoza M, de Juan-Ribera J, Gimeno J, Hermida A, et al.
Orphanet J Rare Dis
. 2023 Jan;
18(1):8.
PMID: 36624527
Background: Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased...
7.
Burton B, Hermida A, Belanger-Quintana A, Bell H, Bjoraker K, Christ S, et al.
Mol Genet Metab
. 2022 Aug;
137(1-2):114-126.
PMID: 36027720
Background: Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of...
8.
Barbosa-Gouveia S, Gonzalez-Vioque E, Hermida A, Suarez M, Martinez-Gonzalez M, Borges F, et al.
Genes (Basel)
. 2020 Sep;
11(9).
PMID: 32887222
The nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the...
9.
Couce M, Sanchez-Pintos P, Vitoria I, De Castro M, Aldamiz-Echevarria L, Correcher P, et al.
Orphanet J Rare Dis
. 2018 Jun;
13(1):103.
PMID: 29945661
Background: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is...
10.
Couce M, Vitoria I, Aldamiz-Echevarria L, Fernandez-Marmiesse A, Roca I, Llarena M, et al.
Orphanet J Rare Dis
. 2016 Sep;
11(1):123.
PMID: 27612877
Background: The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This...