A Burlina
Overview
Explore the profile of A Burlina including associated specialties, affiliations and a list of published articles.
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Articles
241
Citations
1204
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0
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Recent Articles
1.
Burlina A, Bettocchi I, Biasucci G, Bordugo A, Gasperini S, La Spina L, et al.
Eur Rev Med Pharmacol Sci
. 2022 Aug;
26(14):5136-5143.
PMID: 35916811
Objective: Organic acidurias (OAs) are a group of rare metabolic disorders that disrupt the regular amino acid metabolism. OAs are characterized by recurrent episodes of acidemia, ketonuria and hyperammonemia which...
2.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet D, Burlina A, et al.
Mol Genet Metab
. 2021 Mar;
132(4):234-243.
PMID: 33642210
Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack...
3.
Evers R, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Bosch A, et al.
Mol Genet Metab
. 2021 Feb;
132(4):215-219.
PMID: 33610470
Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH), although there is no consensus on the definition of BH responsiveness. The aim of this study therefore...
4.
Macdonald A, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Burlina A, et al.
Orphanet J Rare Dis
. 2020 Sep;
15(1):230.
PMID: 32873338
An amendment to this paper has been published and can be accessed via the original article.
5.
Macdonald A, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Burlina A, et al.
Orphanet J Rare Dis
. 2020 Jul;
15(1):171.
PMID: 32605583
Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main Body: In 2017 the...
6.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, et al.
J Neurol
. 2020 Jun;
268(8):2808-2809.
PMID: 32556534
No abstract available.
7.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, et al.
J Neurol
. 2020 Apr;
268(8):2780-2807.
PMID: 32318851
Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which...
8.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, et al.
Eur J Neurol
. 2020 Mar;
27(6):909-927.
PMID: 32196841
Background And Purpose: Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group...
9.
van Wegberg A, Macdonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch A, et al.
Orphanet J Rare Dis
. 2017 Oct;
12(1):162.
PMID: 29025426
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in...
10.
Viggiano E, Marabotti A, Politano L, Burlina A
Clin Genet
. 2017 Apr;
93(2):206-215.
PMID: 28374897
Galactosemia type 1 is an autosomal recessive disorder of galactose metabolism, determined by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT). GALT deficiency is classified as severe or variant depending...