Alexandre Umpierrez Amaral
Overview
Explore the profile of Alexandre Umpierrez Amaral including associated specialties, affiliations and a list of published articles.
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69
Citations
554
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Recent Articles
1.
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...
2.
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...
3.
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...
4.
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...
5.
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...
6.
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...
7.
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...
8.
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...
9.
Zemniacak A, Roginski A, Ribeiro R, Bender J, Marschner R, Wajner S, et al.
Biochim Biophys Acta Bioenerg
. 2023 Feb;
1864(2):148961.
PMID: 36812958
Refsum disease is an inherited peroxisomal disorder caused by severe deficiency of phytanoyl-CoA hydroxylase activity. Affected patients develop severe cardiomyopathy of poorly known pathogenesis that may lead to a fatal...
10.
Ribeiro R, Carvalho A, Palavro R, Duran-Carabali L, Zemniacak A, Amaral A, et al.
Neurotox Res
. 2022 Dec;
41(2):119-140.
PMID: 36580261
L-2-Hydroxyglutaric aciduria (L-2-HGA) is an inherited neurometabolic disorder caused by deficient activity of L-2-hydroxyglutarate dehydrogenase. L-2-Hydroxyglutaric acid (L-2-HG) accumulation in the brain and biological fluids is the biochemical hallmark of...