Rafael Teixeira Ribeiro
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Explore the profile of Rafael Teixeira Ribeiro including associated specialties, affiliations and a list of published articles.
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34
Citations
134
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Recent Articles
1.
Faverzani J, Guerreiro G, Lopes F, Sitta A, Coelho D, Mescka C, et al.
Metab Brain Dis
. 2025 Jan;
40(1):108.
PMID: 39826055
Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically...
2.
Zemniacak A, Ribeiro R, das Neves G, Cunha S, Tavares T, Carvalho A, et al.
Neurochem Res
. 2025 Jan;
50(1):76.
PMID: 39786600
Brain accumulation of the branched-chain α-keto acids α-ketoisocaproic acid (KIC), α-keto-β-methylvaleric acid (KMV), and α-ketoisovaleric acid (KIV) occurs in maple syrup urine disease (MSUD), an inherited intoxicating metabolic disorder caused...
3.
Ribeiro R, Marcuzzo M, Carvalho A, Palavro R, Castro E, Pinheiro C, et al.
Eur J Pharmacol
. 2024 Dec;
987:177186.
PMID: 39647572
The biochemical hallmark of D-2-hydroxyglutaric aciduria is brain accumulation of D-2-hydroxyglutaric acid (D2HG). Patients present predominantly neurological manifestations, whose pathogenesis is still unknown. Thus, we examined the impact of elevated...
4.
Castro E, Ribeiro R, Carvalho A, Machado D, Zemniacak A, Palavro R, et al.
Neurochem Int
. 2024 Nov;
181:105898.
PMID: 39522695
Patients with glutaric acidemia type I (GA I) manifest motor and intellectual disabilities whose pathogenesis has been so far poorly explored. Therefore, we evaluated neuromotor and cognitive abilities, as well...
5.
Bender J, Ribeiro R, Zemniacak A, Palavro R, Marschner R, Wajner S, et al.
Cell Biochem Funct
. 2024 Oct;
42(8):e70010.
PMID: 39462834
Tyrosinemia type 1 (TT1) is caused by fumarylacetoacetate hydrolase activity deficiency, resulting in tissue accumulation of upstream metabolites, including succinylacetone (SA), the pathognomonic compound of this disease. Since the pathogenesis...
6.
de Andrade Silveira J, Marcuzzo M, da Rosa J, Kist N, Hoffmann C, Carvalho A, et al.
Biomedicines
. 2024 Jul;
12(7).
PMID: 39062136
3-Hydroxy-3-methylglutaric acidemia (HMGA) is a neurometabolic inherited disorder characterized by the predominant accumulation of 3-hydroxy-3-methylglutaric acid (HMG) in the brain and biological fluids of patients. Symptoms often appear in the...
7.
Pinheiro C, Ribeiro R, Roginski A, Brondani M, Zemniacak A, Hoffmann C, et al.
Mol Cell Biochem
. 2024 Mar;
480(1):411-424.
PMID: 38498105
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a lysosomal storage disease caused by mutations in the gene encoding the enzyme iduronate 2-sulfatase (IDS) and biochemically characterized by the accumulation...
8.
Zemniacak A, Ribeiro R, Pinheiro C, Cunha S, Tavares T, Castro E, et al.
Mol Neurobiol
. 2023 Nov;
61(5):2496-2513.
PMID: 37910283
Maple syrup urine disease (MSUD) is caused by severe deficiency of branched-chain α-keto acid dehydrogenase complex activity, resulting in tissue accumulation of branched-chain α-keto acids and amino acids, particularly α-ketoisocaproic...
9.
Bortoluzzi V, Ribeiro R, Pinheiro C, Castro E, Tavares T, Leipnitz G, et al.
Biochem Biophys Res Commun
. 2023 Oct;
684:149123.
PMID: 37871522
Aminoacylase 1 (ACY1) deficiency is an inherited metabolic disorder biochemically characterized by high urinary concentrations of aliphatic N-acetylated amino acids and associated with a broad clinical spectrum with predominant neurological...
10.
Bortoluzzi V, Ribeiro R, Zemniacak A, Cunha S, Sass J, Castilho R, et al.
Neurochem Int
. 2023 Oct;
171:105631.
PMID: 37852579
Aminoacylase 1 (ACY1) deficiency is a rare genetic disorder that affects the breakdown of short-chain aliphatic N-acetylated amino acids, leading to the accumulation of these amino acid derivatives in the...