Alberto Burlina
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Explore the profile of Alberto Burlina including associated specialties, affiliations and a list of published articles.
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137
Citations
3104
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Recent Articles
1.
Porta F, Maiorana A, Gragnaniello V, Procopio E, Gasperini S, Taurisano R, et al.
Ital J Pediatr
. 2024 Oct;
50(1):204.
PMID: 39375714
Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting...
2.
Gugelmo G, Maines E, Boscari F, Lenzini L, Fadini G, Burlina A, et al.
Rev Endocr Metab Disord
. 2024 Oct;
25(5):897-910.
PMID: 39352577
Managing Inherited Metabolic Disorders (IMDs) at risk for hypoglycemia, such as Glycogen Storage Diseases (GSDs), Hereditary Fructose Metabolism Disorders (HFMDs) and Congenital Hyperinsulinism (CH), poses challenges in dietary treatments and...
3.
Pinto A, Ahring K, Almeida M, Ashmore C, Belanger-Quintana A, Burlina A, et al.
Nutrients
. 2024 Sep;
16(17).
PMID: 39275225
In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine...
4.
Feillet F, Arnoux J, Delgado M, Burlina A, Chabrol B, Kucuksayrac E, et al.
J Inherit Metab Dis
. 2024 Sep;
48(1):e12796.
PMID: 39237321
Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce...
5.
Fiumara A, Sapuppo A, Gasperini S, Crescitelli V, Sacchini M, Procopio E, et al.
Mol Genet Metab Rep
. 2024 Aug;
40:101126.
PMID: 39161458
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy,...
6.
Pintus G, Vitturi N, Carraro G, Lenzini L, Gugelmo G, Fasan I, et al.
J Clin Med
. 2024 Aug;
13(15).
PMID: 39124570
Background: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that...
7.
Pinto A, Ahring K, Almeida M, Ashmore C, Belanger-Quintana A, Burlina A, et al.
Nutrients
. 2024 Jul;
16(13).
PMID: 38999811
Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar...
8.
Grunert S, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, et al.
Mol Genet Metab
. 2024 May;
142(2):108486.
PMID: 38733639
Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on...
9.
Feillet F, Ficicioglu C, Lagler F, Longo N, Muntau A, Burlina A, et al.
J Inherit Metab Dis
. 2024 Mar;
47(4):636-650.
PMID: 38433424
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and...
10.
Scala I, Brodosi L, Rovelli V, Noto D, Burlina A
Mol Genet Metab Rep
. 2024 Mar;
39:101065.
PMID: 38425869
Objective: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for...